Varaico: Literature-Extracted Genetic Variants

Gene:CAPN8

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
1–12 of 43 variants
5 papers
NM_001143962.2
p.S245Y
c.734C>A
3 papers
NM_001143962.2
p.T592M
c.1775C>T
1 paper
NM_001143962.2
p.A13V
c.38C>T
1 paper
NM_001143962.2
p.V44delFs
c.130delC
1 paper
NM_001143962.2
p.Q71E
c.211C>G
1 paper
NM_001143962.2
p.T93M
c.278C>T
1 paper
NM_001143962.2
p.R94G
c.280C>G
1 paper
NM_001143962.2
p.C105S
c.313T>A
1 paper
NM_001143962.2
p.C105S
c.314G>C
1 paper
NM_001143962.2
p.F131L
c.391T>C
1 paper
NM_001143962.2
p.F131L
c.393C>G
1 paper
NM_001143962.2
p.F131L
c.393C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."