Varaico: Literature-Extracted Genetic Variants

Gene:CASP8AP2
Variant:p.Q514H

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.Q514H
c.1542G>T
Surrounding Variants
1 paper
NM_001137667.2
p.Q514H
c.1542G>C
1 paper
NM_001137667.2
p.E516insFs
c.1548dupA
1 paper
NM_001137667.2
p.E523Q
c.1567G>C
1 paper
NM_001137667.2
p.E523_L525del0
c.1568_1573del6
1 paper
NM_001137667.2
p.E503delFs
c.1508_1509delAA
1 paper
NM_001137667.2
p.K502T
c.1505A>C
1 paper
NM_001137667.2
p.H496N
c.1486C>A
1 paper
NM_001137667.2
p.D534H
c.1600G>C
1 paper
NM_001137667.2
p.H485R
c.1454A>G
1 paper
NM_001137667.2
p.N551del1
c.1651_1653delAAC
1 paper
NM_001137667.2
p.Q477Q
c.1431A>G
1 paper
NM_001137667.2
p.K552T
c.1655A>C
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