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.S181S

c.543C>T

Surrounding Variants

2 papers

NM_001184900.3

p.V182F

c.544G>T

1 paper

NM_001184900.3

p.A187insFs

c.560_561insA

1 paper

NM_001184900.3

p.L197L

c.591C>T

3 papers

NM_001184900.3

p.G198S

c.592G>A

1 paper

NM_001184900.3

p.L200insFs

c.599_600insA

1 paper

NM_001184900.3

p.L200P

c.599T>C

2 papers

NM_001184900.3

p.E204A

c.611A>C

2 papers

NM_001184900.3

p.T208M

c.623C>T

1 paper

NM_001184900.3

p.E226*

c.676G>T

1 paper

NM_001184900.3

p.G231G

c.693C>T

1 paper

NM_001184900.3

p.I254I

c.762C>T

1 paper

NM_001184900.3

p.D262H

c.784G>C