Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu216Pro (p.L216P)
(
ENST00000490416.2,
ENST00000487476.5,
ENST00000431387.8,
ENST00000356175.7,
ENST00000691014.1,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000696138.1, ENST00000358273.9, ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Tyr491Cys (p.Y491C) ( ENST00000487476.5, ENST00000431387.8, ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu549Pro (p.L549P) ( ENST00000691014.1, ENST00000356175.7, ENST00000431387.8, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Ile581Thr (p.I581T) ( ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Lys583Arg (p.K583R) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Leu695Pro (p.L695P) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Leu763Pro (p.L763P) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.Leu763Arg (p.L763R) ( ENST00000356175.7, ENST00000691014.1, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Trp777Ser (p.W777S) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Thr780Lys (p.T780K) ( ENST00000691014.1, ENST00000356175.7, ENST00000358273.9, ENST00000696138.1 )
NF1 p.His781Pro (p.H781P) ( ENST00000356175.7, ENST00000691014.1, ENST00000358273.9, ENST00000696138.1 )
NF1 p.His781Leu (p.H781L) ( ENST00000358273.9, ENST00000696138.1, ENST00000691014.1, ENST00000356175.7 )
NF1 p.Leu847Pro (p.L847P) ( ENST00000358273.9, ENST00000691014.1, ENST00000696138.1, ENST00000356175.7 )
NF1 p.Asn1156Ser (p.N1156S) ( ENST00000696138.1, ENST00000358273.9, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Arg1250Pro (p.R1250P) ( ENST00000691014.1, ENST00000356175.7, ENST00000696138.1, ENST00000358273.9 )
NF1 p.Arg1276Gln (p.R1276Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Pro (p.R1276P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ile1605Val (p.I1605V) ( ENST00000358273.9, ENST00000696138.1, ENST00000356175.7, ENST00000691014.1 )
NF1 p.Thr2507Ile (p.T2507I) ( ENST00000687027.1, ENST00000691014.1, ENST00000356175.7, ENST00000684826.1, ENST00000696138.1, ENST00000693617.1, ENST00000358273.9 )
NF1 p.Leu216Pro (p.L216P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Tyr491Cys (p.Y491C) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu549Pro (p.L549P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ile581Thr (p.I581T) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Lys583Arg (p.K583R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu695Pro (p.L695P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu763Pro (p.L763P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu763Arg (p.L763R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Trp777Ser (p.W777S) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Thr780Lys (p.T780K) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.His781Pro (p.H781P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.His781Leu (p.H781L) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Leu847Pro (p.L847P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Asn1156Ser (p.N1156S) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1250Pro (p.R1250P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Gln (p.R1276Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Arg1276Pro (p.R1276P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Ile1605Val (p.I1605V) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Thr2507Ile (p.T2507I) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene.
- Pubmed
- 10712197
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.670236158889378
- Year of publication
- 2000
Drugs