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

1–12 of 113 variants

18 papers

NM_001184900.3

p.S10R

c.30T>A

18 papers

NM_001184900.3

p.F102I

c.304T>A

4 papers

NM_001184900.3

p.V148fs

c.442_443fs

4 papers

NM_001184900.3

p.S297A

c.889T>G

3 papers

NM_001184900.3

p.S39P

c.115T>C

3 papers

NM_001184900.3

p.R103H

c.308G>A

3 papers

NM_001184900.3

p.D114fs

c.340_341fs

3 papers

NM_001184900.3

p.K147insFs

c.440_441dupAA

3 papers

NM_001184900.3

p.G198S

c.592G>A

3 papers

NM_001184900.3

p.A306T

c.916G>A

2 papers

NM_001184900.3

p.P18L

c.53C>T

2 papers

NM_001184900.3

p.R40W

c.118C>T