Varaico: Literature-Extracted Genetic Variants

Gene:CAPN8
Variant:p.D243_V244Splc

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.D243_V244Splc
c.730-2A>G
Surrounding Variants
5 papers
NM_001143962.2
p.S245Y
c.734C>A
1 paper
NM_001143962.2
p.D243_V244Splc
c.729+9T>A
1 paper
NM_001143962.2
p.I242T
c.725T>C
1 paper
NM_001143962.2
p.D156H
c.466G>C
1 paper
NM_001143962.2
p.A136V
c.407C>T
1 paper
NM_001143962.2
p.F131L
c.393C>G
1 paper
NM_001143962.2
p.F131L
c.393C>A
1 paper
NM_001143962.2
p.F131L
c.391T>C
1 paper
NM_001143962.2
p.C105S
c.314G>C
1 paper
NM_001143962.2
p.C105S
c.313T>A
1 paper
NM_001143962.2
p.E271_V272Splc
c.814-1G>A
1 paper
NM_001143962.2
p.S294L
c.881C>T
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