Varaico: Literature-Extracted Genetic Variants

Gene:CASP2
Variant:p.S433A

CASP2

100 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded pro...

Pfam Domains

CARDaa 37–108UCSCCaspase recruitment domain
CARDaa 37–121UCSCCaspase recruitment domain
Peptidase_C14aa 199–444UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 2

HGNC Previous Symbol

NEDD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032982.4
p.S433A
c.1297T>G
Surrounding Variants
1 paper
NM_032982.4
p.E434A
c.1301A>C
1 paper
NM_032982.4
p.E431A
c.1292A>C
1 paper
NM_032982.4
p.T438A
c.1312A>G
1 paper
NM_032982.4
p.L443V
c.1327C>G
1 paper
NM_032982.4
p.D416G
c.1247A>G
1 paper
NM_032982.4
p.V403M
c.1207G>A
1 paper
NM_032982.4
p.R397L
c.1190G>T
1 paper
NM_032982.4
p.Q392E
c.1174C>G
3 papers
NM_032982.4
p.Q392*
c.1174C>T
1 paper
NM_032982.4
p.Y386delFs
c.1156delT
1 paper
NM_032982.4
p.S384T
c.1150T>A
2 papers
NM_032982.4
p.S384A
c.1150T>G
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