Varaico: Literature-Extracted Genetic Variants

CARD6

82 papers

RefSeq Summary

This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtu...

Pfam Domains

CARDaa 8–91UCSCCaspase recruitment domain

URGCP_Naa 286–358UCSCUp-regulator of cell proliferation-like, N-terminal domain

URGCPaa 373–675UCSCUp-regulator of cell proliferation-like domain

Gene Aliases

HGNC Name

caspase recruitment domain family member 6

HGNC Alias Symbol

CINCIN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032587.4

p.L482I

c.1444T>A

Surrounding Variants

1 paper

NM_032587.4

p.L475V

c.1423C>G

1 paper

NM_032587.4

p.R498W

c.1492C>T

1 paper

NM_032587.4

p.R459C

c.1375C>T

1 paper

NM_032587.4

p.T508A

c.1522A>G

2 papers

NM_032587.4

p.D515N

c.1543G>A

3 papers

NM_032587.4

p.L447P

c.1340T>C

1 paper

NM_032587.4

p.P521L

c.1562C>T

1 paper

NM_032587.4

p.P521_F522ins3

c.1563_1564ins9

1 paper

NM_032587.4

p.F523_P526del0

c.1569_1577del9

1 paper

NM_032587.4

p.A530D

c.1589C>A

2 papers

NM_032587.4

p.K430N

c.1290G>C

2 papers

NM_032587.4

p.K430N

c.1290G>T