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.L30del1

c.88_89delTTA

Surrounding Variants

1 paper

NM_032587.4

p.L30delFs

c.88_89delTT

1 paper

NM_032587.4

p.L30fs

c.88_89fs

1 paper

NM_032587.4

p.S28F

c.83C>T

1 paper

NM_032587.4

p.D31H

c.91G>C

1 paper

NM_032587.4

p.D31G

c.92A>G

1 paper

NM_032587.4

p.L38_I39delFs

c.114_115delGA

1 paper

NM_032587.4

p.E41K

c.121G>A

1 paper

NM_032587.4

p.E42G

c.125A>G

1 paper

NM_032587.4

p.E14G

c.41A>G

2 papers

NM_032587.4

p.E14K

c.40G>A

1 paper

NM_032587.4

p.E45E

c.135G>A

1 paper

NM_032587.4

p.I10delFs

c.30delC