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

4 papers

NM_001184900.3

p.S297A

c.889T>G

Surrounding Variants

1 paper

NM_014959.5

p.P244A

c.730C>G

1 paper

NM_001184900.3

p.E292_S293insAA

c.874_878ins6

1 paper

NM_001184900.3

p.L291_E292insAA

c.871_875ins6

1 paper

NM_001184900.3

p.V290A

c.869T>C

3 papers

NM_001184900.3

p.A306T

c.916G>A

1 paper

NM_001184900.3

p.I321V

c.961A>G

1 paper

NM_001184900.3

p.I321M

c.963C>G

1 paper

NM_001184900.3

p.H324Y

c.970C>T

2 papers

NM_001184900.3

p.P325R

c.974C>G

1 paper

NM_001184900.3

p.V268I

c.802G>A

1 paper

NM_001184900.3

p.D262H

c.784G>C

1 paper

NM_001184900.3

p.I254I

c.762C>T