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.C77S

c.229T>A

Surrounding Variants

1 paper

NM_001184900.3

p.C77S

c.230G>C

1 paper

NM_001184900.3

p.P76L

c.227C>T

1 paper

NM_001184900.3

p.P76S

c.226C>T

1 paper

NM_001184900.3

p.L82L

c.246T>C

1 paper

NM_001184900.3

p.V71A

c.212T>C

1 paper

NM_001184900.3

p.C83S

c.247T>A

1 paper

NM_001184900.3

p.V71I

c.211G>A

1 paper

NM_001184900.3

p.C83S

c.248G>C

1 paper

NM_001184900.3

p.D84V

c.251A>T

2 papers

NM_001184900.3

p.H87P

c.260A>C

1 paper

NM_014959.5

p.D42_D43insFs

c.126_127insAA

1 paper

NM_001184900.3

p.A97T

c.289G>A