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_014959.5

p.S126_T127insAA

c.376_380ins6

Surrounding Variants

1 paper

NM_001184900.3

p.T177T

c.531A>G

2 papers

NM_001184900.3

p.I173V

c.517A>G

2 papers

NM_001184900.3

p.D169H

c.505G>C

1 paper

NM_001184900.3

p.V168A

c.503T>C

1 paper

NM_001184900.3

p.G166E

c.497G>A

1 paper

NM_001184900.3

p.E151A

c.452A>C

1 paper

NM_001184900.3

p.C149S

c.446G>C

1 paper

NM_001184900.3

p.C149S

c.445T>A

4 papers

NM_001184900.3

p.V148fs

c.442_443fs

3 papers

NM_001184900.3

p.K147insFs

c.440_441dupAA

1 paper

NM_001184900.3

p.K147fs

c.439_440fs

1 paper

NM_001184900.3

p.C134S

c.401G>C