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

3 papers

NM_003821.6

p.N104D

c.310A>G

Surrounding Variants

1 paper

NM_003821.6

p.E105*

c.313G>T

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

1 paper

NM_003821.6

p.I81N

c.242T>A

1 paper

NM_003821.6

p.Y77F

c.230A>T

1 paper

NM_003821.6

p.K72E

c.214A>G

1 paper

NM_003821.6

p.L70*

c.209T>A

1 paper

NM_003821.6

p.E66D

c.198A>C

1 paper

NM_003821.6

p.R65_E66insFs

c.195_196insT

1 paper

NM_003821.6

p.D62N

c.184G>A

1 paper

NM_003821.6

p.S58R

c.174T>A