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

2 papers

NM_003821.6

p.L294F

c.882G>T

Surrounding Variants

2 papers

NM_003821.6

p.L294F

c.882G>C

1 paper

NM_003821.6

p.R295S

c.885A>T

1 paper

NM_003821.6

p.P292P

c.876A>G

1 paper

NM_003821.6

p.E299G

c.896A>G

1 paper

NM_003821.6

p.C286*

c.858T>A

1 paper

NM_003821.6

p.E304K

c.910G>A

1 paper

NM_003821.6

p.K313N

c.939G>C

1 paper

NM_003821.6

p.K313N

c.939G>T

1 paper

NM_003821.6

p.K313_L314Splc

c.940-976G>A

1 paper

NM_003821.6

p.L314insFs

c.941_942ins4

1 paper

NM_003821.6

p.S332Y

c.995C>A

1 paper

NM_003821.6

p.N334S

c.1001A>G