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.G892R

c.2674G>C

Surrounding Variants

1 paper

NM_032587.4

p.G892R

c.2674G>A

2 papers

NM_032587.4

p.S857L

c.2570C>T

1 paper

NM_032587.4

p.L929F

c.2785C>T

1 paper

NM_032587.4

p.P935S

c.2803C>T

1 paper

NM_032587.4

p.L839F

c.2515C>T

1 paper

NM_032587.4

p.H954Q

c.2862C>A

1 paper

NM_032587.4

p.H954Q

c.2862C>G

1 paper

NM_032587.4

p.P957L

c.2870C>T

1 paper

NM_032587.4

p.R807W

c.2419C>T

1 paper

NM_032587.4

p.K993N

c.2979G>C

1 paper

NM_032587.4

p.K993N

c.2979G>T

1 paper

NM_032587.4

p.Q777R

c.2330A>G