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.R179Q

c.536G>A

Surrounding Variants

2 papers

NM_003821.6

p.S176A

c.526T>G

2 papers

NM_003821.6

p.E186K

c.556G>A

1 paper

NM_003821.6

p.M172T

c.515T>C

1 paper

NM_003821.6

p.R171C

c.511C>T

1 paper

NM_003821.6

p.W170*

c.510G>A

1 paper

NM_003821.6

p.W170*

c.509G>A

1 paper

NM_003821.6

p.G188E

c.563G>A

1 paper

NM_003821.6

p.P194S

c.580C>T

1 paper

NM_003821.6

p.P195_E196insT

c.583_587ins3

1 paper

NM_003821.6

p.G201E

c.602G>A

1 paper

NM_003821.6

p.Q202E

c.604C>G

3 papers

NM_003821.6

p.S204S

c.612A>T