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

4 papers

NM_032587.4

p.I194V

c.580A>G

Surrounding Variants

1 paper

NM_032587.4

p.E186G

c.557A>G

1 paper

NM_032587.4

p.G184E

c.551G>A

1 paper

NM_032587.4

p.S206A

c.616T>G

1 paper

NM_032587.4

p.G216G

c.648A>G

1 paper

NM_032587.4

p.D170Y

c.508G>T

1 paper

NM_032587.4

p.N165I

c.494A>T

1 paper

NM_032587.4

p.E248K

c.742G>A

1 paper

NM_032587.4

p.F255L

c.763T>C

1 paper

NM_032587.4

p.F255L

c.765C>A

1 paper

NM_032587.4

p.F255L

c.765C>G

1 paper

NM_032587.4

p.S114_E115del1

c.342_344delAGA

1 paper

NM_032587.4

p.S114_E115del2

c.340_344del6