Varaico: Literature-Extracted Genetic Variants

Gene:RIPK2
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
1 paper
NM_003821.6
p.M1L
c.1A>C
1 paper
NM_003821.6
p.M1insFs
c.2_3insA
1 paper
NM_003821.6
p.A5V
c.14C>T
1 paper
NM_003821.6
p.I6N
c.17T>A
1 paper
NM_003821.6
p.I6M
c.18C>G
1 paper
NM_003821.6
p.S8S
c.24C>T
1 paper
NM_003821.6
p.R36L
c.107G>T
1 paper
NM_003821.6
p.H37L
c.110A>T
1 paper
NM_003821.6
p.R41L
c.122G>T
1 paper
NM_003821.6
p.K47E
c.139A>G
3 papers
NM_003821.6
p.K47R
c.140A>G
1 paper
NM_003821.6
p.K47M
c.140A>T
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