Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.Gly752Ala (p.G752A)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.Lys755Arg (p.K755R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Thr756Ile (p.T756I) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp851His (p.D851H) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Glu852Lys (p.E852K) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Glu852Asp (p.E852D) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His854Arg (p.H854R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg855Gly (p.R855G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg855Ter (p.R855*) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Arg (p.G881R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Val (p.G881V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Pro883Leu (p.P883L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His939Tyr (p.H939Y) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu946Ser (p.L946S) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu946Phe (p.L946F) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1105Cys (p.R1105C) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1105Pro (p.R1105P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu1135Pro (p.L1135P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ser1146Arg (p.S1146R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp1158Val (p.D1158V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gly (p.R1159G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gln (p.R1159Q) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Leu (p.R1159L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1162His (p.R1162H) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1188Pro (p.A1188P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1201Val (p.A1201V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1202Cys (p.G1202C) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp1205Gly (p.D1205G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1213Trp (p.R1213W) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly752Ala (p.G752A) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Lys755Arg (p.K755R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Thr756Ile (p.T756I) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp851His (p.D851H) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Glu852Lys (p.E852K) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Glu852Asp (p.E852D) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His854Arg (p.H854R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg855Gly (p.R855G) ( ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1, ENST00000349721.8, ENST00000357248.8, ENST00000382194.6 )
SMARCA2 p.Arg855Ter (p.R855*) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Arg (p.G881R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Val (p.G881V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Pro883Leu (p.P883L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His939Tyr (p.H939Y) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu946Ser (p.L946S) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu946Phe (p.L946F) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1105Cys (p.R1105C) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1105Pro (p.R1105P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Leu1135Pro (p.L1135P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ser1146Arg (p.S1146R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp1158Val (p.D1158V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gly (p.R1159G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gln (p.R1159Q) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Leu (p.R1159L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1162His (p.R1162H) ( ENST00000382194.6, ENST00000349721.8, ENST00000357248.8, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1188Pro (p.A1188P) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1201Val (p.A1201V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1202Cys (p.G1202C) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Asp1205Gly (p.D1205G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1213Trp (p.R1213W) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 ) - Associated Disease
- Nicolaides Baraitser syndrome
- Source Database
- DisGeNET
- Description
- Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Pubmed
- 22366787
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.480814325616241
- Year of publication
- 2012
Drugs