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.L314insFs

c.941_942ins4

Surrounding Variants

1 paper

NM_003821.6

p.S332Y

c.995C>A

1 paper

NM_003821.6

p.N334S

c.1001A>G

1 paper

NM_003821.6

p.N334N

c.1002C>T

1 paper

NM_003821.6

p.Q342K

c.1024C>A

1 paper

NM_003821.6

p.E343E

c.1029G>A

1 paper

NM_003821.6

p.K313_L314Splc

c.940-976G>A

1 paper

NM_003821.6

p.Q350R

c.1049A>G

1 paper

NM_003821.6

p.H352R

c.1055A>G

1 paper

NM_003821.6

p.P358L

c.1073C>T

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.E304K

c.910G>A