Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Val198Met (p.V198M)
(
ENST00000348069.7,
ENST00000643234.2,
ENST00000366496.7,
ENST00000336119.8,
ENST00000697350.1,
ENST00000391827.3,
ENST00000474792.2,
ENST00000391828.8,
ENST00000697408.2 )
NLRP3 p.Val198Leu (p.V198L) ( ENST00000336119.8, ENST00000697350.1, ENST00000366496.7, ENST00000348069.7, ENST00000643234.2, ENST00000697408.2, ENST00000391827.3, ENST00000474792.2, ENST00000391828.8 )
NLRP3 p.Arg260Ter (p.R260*) ( ENST00000366496.7, ENST00000348069.7, ENST00000474792.2, ENST00000391827.3, ENST00000391828.8, ENST00000336119.8, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303Asn (p.D303N) ( ENST00000336119.8, ENST00000474792.2, ENST00000391827.3, ENST00000348069.7, ENST00000366496.7, ENST00000391828.8, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000474792.2, ENST00000391827.3, ENST00000391828.8, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Phe309Ser (p.F309S) ( ENST00000643234.2, ENST00000348069.7, ENST00000366496.7, ENST00000336119.8, ENST00000697350.1, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000697408.2 )
NLRP3 p.Ala352Val (p.A352V) ( ENST00000336119.8, ENST00000697350.1, ENST00000643234.2, ENST00000348069.7, ENST00000366496.7, ENST00000697408.2, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2 )
NLRP3 p.Leu353Pro (p.L353P) ( ENST00000348069.7, ENST00000643234.2, ENST00000366496.7, ENST00000336119.8, ENST00000697350.1, ENST00000391827.3, ENST00000474792.2, ENST00000391828.8, ENST00000697408.2 )
NLRP3 p.Ala439Val (p.A439V) ( ENST00000348069.7, ENST00000391827.3, ENST00000391828.8, ENST00000366496.7, ENST00000336119.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Gly569Arg (p.G569R) ( ENST00000348069.7, ENST00000643234.2, ENST00000366496.7, ENST00000697350.1, ENST00000336119.8, ENST00000474792.2, ENST00000391828.8, ENST00000391827.3, ENST00000697408.2 )
NLRP3 p.Phe573Ser (p.F573S) ( ENST00000697408.2, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000336119.8, ENST00000697350.1, ENST00000643234.2, ENST00000348069.7, ENST00000366496.7 )
NLRP3 p.Glu627Gly (p.E627G) ( ENST00000366496.7, ENST00000643234.2, ENST00000348069.7, ENST00000697350.1, ENST00000336119.8, ENST00000391828.8, ENST00000474792.2, ENST00000391827.3, ENST00000697408.2 )
NLRP3 p.Val198Met (p.V198M) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Val198Leu (p.V198L) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Arg260Ter (p.R260*) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303Asn (p.D303N) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Phe309Ser (p.F309S) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Ala352Val (p.A352V) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Leu353Pro (p.L353P) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Ala439Val (p.A439V) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Gly569Arg (p.G569R) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Phe573Ser (p.F573S) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Glu627Gly (p.E627G) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- Familial cold urticaria
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.566786046802008
- Year of publication
- NA
Drugs