Varaico: Literature-Extracted Genetic Variants

Gene:CASP8AP2
Variant:p.S1247Y

CASP8AP2

150 papers

RefSeq Summary

This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein...

Gene Aliases

HGNC Name

caspase 8 associated protein 2

HGNC Alias Symbols

FLASH; CED-4; RIP25; FLJ11208; KIAA1315

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001137667.2
p.S1247Y
c.3740C>A
Surrounding Variants
1 paper
NM_001137667.2
p.K1245N
c.3735G>C
1 paper
NM_001137667.2
p.K1245N
c.3735G>T
1 paper
NM_001137667.2
p.N1243D
c.3727A>G
1 paper
NM_001137667.2
p.N1236fs
c.3706_3707fs
1 paper
NM_001137667.2
p.K1235Q
c.3703A>C
1 paper
NM_001137667.2
p.K1234fs
c.3700_3701fs
2 papers
NM_001137667.2
p.N1236delFs
c.3707delA
1 paper
NM_001137667.2
p.D1232N
c.3694G>A
1 paper
NM_001137667.2
p.D1220Y
c.3658G>T
1 paper
NM_001137667.2
p.C1211Y
c.3632G>A
1 paper
NM_001137667.2
p.E1290D
c.3870G>C
1 paper
NM_001137667.2
p.E1290D
c.3870G>T
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