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.I496fs

c.1486_1487fs

Surrounding Variants

1 paper

NM_003821.6

p.D495A

c.1484A>C

1 paper

NM_003821.6

p.Q497K

c.1489C>A

1 paper

NM_003821.6

p.Q497E

c.1489C>G

1 paper

NM_003821.6

p.D492A

c.1475A>C

1 paper

NM_003821.6

p.E500A

c.1499A>C

1 paper

NM_003821.6

p.L490S

c.1469T>C

1 paper

NM_003821.6

p.K503R

c.1508A>G

1 paper

NM_003821.6

p.R488K

c.1463G>A

1 paper

NM_003821.6

p.P481A

c.1441C>G

1 paper

NM_003821.6

p.K480E

c.1438A>G

1 paper

NM_003821.6

p.N512K

c.1536C>A

1 paper

NM_003821.6

p.N512K

c.1536C>G