Varaico: Literature-Extracted Genetic Variants

Gene:CAPN8
Variant:p.A379Splc

CAPN8

48 papers

Pfam Domains

Peptidase_C2aa 46–342UCSCCalpain family cysteine protease
Calpain_IIIaa 361–504UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 8

HGNC Alias Symbol

nCL-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143962.2
p.A379Splc
c.1135+1157G>T
Surrounding Variants
1 paper
NM_001143962.2
p.S369F
c.1106C>T
1 paper
NM_001143962.2
p.F361delFs
c.1083delG
1 paper
NM_001143962.2
p.F361fs
c.1081_1082fs
1 paper
NM_001143962.2
p.W325Splc
c.975-104C>T
1 paper
NM_001143962.2
p.W325Splc
c.975-106G>T
1 paper
NM_001143962.2
p.R390H
c.1169G>A
1 paper
NM_001143962.2
p.N305Y
c.913A>T
1 paper
NM_001143962.2
p.A434A
c.1302C>T
1 paper
NM_001143962.2
p.V435I
c.1303G>A
1 paper
NM_001143962.2
p.D299G
c.896A>G
1 paper
NM_001143962.2
p.S294L
c.881C>T
1 paper
NM_001143962.2
p.E271_V272Splc
c.814-1G>A
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