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.K425delFs

c.1273delA

Surrounding Variants

1 paper

NM_032587.4

p.K425fs

c.1273_1274fs

6 papers

NM_032587.4

p.D426V

c.1277A>T

2 papers

NM_032587.4

p.K430N

c.1290G>C

2 papers

NM_032587.4

p.K430N

c.1290G>T

3 papers

NM_032587.4

p.L447P

c.1340T>C

1 paper

NM_032587.4

p.Q400_C401insFs

c.1200_1203dup4

1 paper

NM_032587.4

p.R392C

c.1174C>T

1 paper

NM_032587.4

p.R459C

c.1375C>T

1 paper

NM_032587.4

p.L475V

c.1423C>G

1 paper

NM_032587.4

p.L482I

c.1444T>A

1 paper

NM_032587.4

p.R498W

c.1492C>T

1 paper

NM_032587.4

p.D342_I344del3

c.1024_1031del9