Varaico: Literature-Extracted Genetic Variants

Gene:CAPN8
Variant:p.A462T

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.A462T
c.1384G>A
Surrounding Variants
1 paper
NM_001143962.2
p.S505insFs
c.1513_1514ins7
1 paper
NM_001143962.2
p.K440K
c.1320G>A
1 paper
NM_001143962.2
p.V435I
c.1303G>A
1 paper
NM_001143962.2
p.A434A
c.1302C>T
1 paper
NM_001143962.2
p.R390H
c.1169G>A
1 paper
NM_001143962.2
p.A379Splc
c.1135+1157G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."