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

1–12 of 93 variants

6 papers

NM_032587.4

p.D426V

c.1277A>T

4 papers

NM_032587.4

p.I194V

c.580A>G

3 papers

NM_032587.4

p.S86L

c.257C>T

3 papers

NM_032587.4

p.L447P

c.1340T>C

2 papers

NM_032587.4

p.E14K

c.40G>A

2 papers

NM_032587.4

p.K430N

c.1290G>C

2 papers

NM_032587.4

p.K430N

c.1290G>T

2 papers

NM_032587.4

p.D515N

c.1543G>A

2 papers

NM_032587.4

p.E652D

c.1956G>C

2 papers

NM_032587.4

p.E652D

c.1956G>T

2 papers

NM_032587.4

p.Q708E

c.2122C>G

2 papers

NM_032587.4

p.S857L

c.2570C>T