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.W732C

c.2196G>C

Surrounding Variants

1 paper

NM_032587.4

p.W732C

c.2196G>T

1 paper

NM_032587.4

p.N743N

c.2229C>T

1 paper

NM_032587.4

p.S712_Q713ins4

c.2136_2137ins12

1 paper

NM_032587.4

p.R755H

c.2264G>A

2 papers

NM_032587.4

p.Q708E

c.2122C>G

1 paper

NM_032587.4

p.Q777R

c.2330A>G

1 paper

NM_032587.4

p.S671F

c.2012C>T

1 paper

NM_032587.4

p.R807W

c.2419C>T

2 papers

NM_032587.4

p.E652D

c.1956G>C

2 papers

NM_032587.4

p.E652D

c.1956G>T

1 paper

NM_032587.4

p.A648G

c.1943C>G

1 paper

NM_032587.4

p.D645Y

c.1933G>T