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

1–12 of 125 variants

8 papers

NM_003821.6

p.I259T

c.776T>C

4 papers

NM_003821.6

p.K209R

c.626A>G

3 papers

NM_003821.6

p.K47R

c.140A>G

3 papers

NM_003821.6

p.N104D

c.310A>G

3 papers

NM_003821.6

p.S204S

c.612A>T

2 papers

NM_003821.6

p.D146N

c.436G>A

2 papers

NM_003821.6

p.K161_I162Splc

c.483+789G>A

2 papers

NM_003821.6

p.S176A

c.526T>G

2 papers

NM_003821.6

p.R179Q

c.536G>A

2 papers

NM_003821.6

p.E186K

c.556G>A

2 papers

NM_003821.6

p.L294F

c.882G>C

2 papers

NM_003821.6

p.L294F

c.882G>T