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.A104insFs

c.311_312insG

Surrounding Variants

3 papers

NM_001184900.3

p.R103H

c.308G>A

19 papers

NM_001184900.3

p.F102I

c.304T>A

NM_001351784.2

p.C10*

c.30T>A

1 paper

NM_001184900.3

p.L101F

c.303G>C

1 paper

NM_001184900.3

p.E107V

c.320A>T

1 paper

NM_001184900.3

p.C108S

c.322T>A

1 paper

NM_001184900.3

p.C108S

c.323G>C

1 paper

NM_001184900.3

p.E98insFs

c.292_293insAA

1 paper

NM_001184900.3

p.A97T

c.289G>A

1 paper

NM_001184900.3

p.G112E

c.335G>A

1 paper

NM_001184900.3

p.G113A

c.338G>C

3 papers

NM_001184900.3

p.D114fs

c.340_341fs

1 paper

NM_014959.5

p.D42_D43insFs

c.126_127insAA