Varaico: Literature-Extracted Genetic Variants

CARD8

141 papers

RefSeq Summary

The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kapp...

Pfam Domains

FIINDaa 173–309UCSCFunction to find

UPA-FIINDaa 315–432UCSCUPA-FIIND domain

CARDaa 451–535UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

caspase recruitment domain family member 8

HGNC Alias Symbols

TUCAN; KIAA0955; CARDINAL; NDPP; Dakar

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184900.3

p.E16V

c.47A>T

Surrounding Variants

2 papers

NM_001184900.3

p.P18L

c.53C>T

1 paper

NM_001184900.3

p.S13N

c.38G>A

18 papers

NM_001184900.3

p.S10R

c.30T>A

1 paper

NM_001184900.3

p.C6R

c.16T>C

1 paper

NM_001184900.3

p.D21H

c.61G>C

1 paper

NM_001184900.3

p.K32insFs

c.94_95ins4

1 paper

NM_001184900.3

p.G38A

c.113G>C

1 paper

NM_001184900.3

p.G38E

c.113G>A

3 papers

NM_001184900.3

p.S39P

c.115T>C

2 papers

NM_001184900.3

p.R40W

c.118C>T

1 paper

NM_001184900.3

p.R40Q

c.119G>A

2 papers

NM_001184900.3

p.V44I

c.130G>A