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.D45V

c.134A>T

Surrounding Variants

1 paper

NM_001184900.3

p.D45Y

c.133G>T

2 papers

NM_001184900.3

p.V44I

c.130G>A

2 papers

NM_001184900.3

p.R49R

c.145C>A

1 paper

NM_001184900.3

p.R40Q

c.119G>A

2 papers

NM_001184900.3

p.R40W

c.118C>T

3 papers

NM_001184900.3

p.S39P

c.115T>C

1 paper

NM_001184900.3

p.Q52*

c.154C>T

1 paper

NM_001184900.3

p.G38A

c.113G>C

1 paper

NM_001184900.3

p.G38E

c.113G>A

1 paper

NM_001184900.3

p.T54S

c.160A>T

1 paper

NM_001184900.3

p.T56I

c.167C>T

1 paper

NM_001184900.3

p.G57A

c.170G>C