Varaico: Literature-Extracted Genetic Variants

RIPK2

166 papers

RefSeq Summary

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CA...

Pfam Domains

PK_Tyr_Ser-Thraa 18–290UCSCProtein tyrosine and serine/threonine kinase

CARDaa 437–524UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

receptor interacting serine/threonine kinase 2

HGNC Alias Symbols

RICK; RIP2; CARDIAK; CARD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003821.6

p.A129A

c.387C>T

Surrounding Variants

1 paper

NM_003821.6

p.A129S

c.385G>T

2 papers

NM_003821.6

p.D146N

c.436G>A

1 paper

NM_003821.6

p.E112_Y113del2

c.334_338del6

1 paper

NM_003821.6

p.K110I

c.329A>T

1 paper

NM_003821.6

p.L153*

c.458T>G

2 papers

NM_003821.6

p.K161_I162Splc

c.483+789G>A

1 paper

NM_003821.6

p.R109_K110Splc

c.327+1083T>C

1 paper

NM_003821.6

p.E105*

c.313G>T

3 papers

NM_003821.6

p.N104D

c.310A>G

1 paper

NM_003821.6

p.N100S

c.299A>G

1 paper

NM_003821.6

p.I84V

c.250A>G

1 paper

NM_003821.6

p.L82W

c.245T>G