Varaico: Literature-Extracted Genetic Variants

Gene:CASP8
Variant:p.A397V

CASP8

817 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

DEDaa 3–84UCSCDeath effector domain
DEDaa 101–181UCSCDeath effector domain
Peptidase_C14aa 233–475UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 8

HGNC Alias Symbols

MCH5; MACH; FLICE; Casp-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001372051.1
p.A397V
c.1190C>T
Surrounding Variants
1 paper
NM_001372051.1
p.D398N
c.1192G>A
1 paper
NM_001372051.1
p.D398H
c.1192G>C
1 paper
NM_001372051.1
p.D398G
c.1193A>G
1 paper
NM_001372051.1
p.D395H
c.1183G>C
5 papers
NM_001080125.2
p.P453L
c.1358C>T
NM_001372051.1
p.P394L
c.1181C>T
NM_001228.5
p.P411L
c.1232C>T
1 paper
NM_001372051.1
p.P394T
c.1180C>A
1 paper
NM_001372051.1
p.G402R
c.1204G>A
1 paper
NM_001372051.1
p.G402W
c.1204G>T
1 paper
NM_001372051.1
p.I393_L401del9
c.1177_1202del27
1 paper
NM_001372051.1
p.R391S
c.1173A>T
1 paper
NM_001372051.1
p.M403delFs
c.1209delG
1 paper
NM_001372051.1
p.A404_T405insAG
c.1210_1214ins6
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