Varaico: Literature-Extracted Genetic Variants

Gene:CAPN12
Variant:p.E563E

CAPN12

84 papers

RefSeq Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ub...

Pfam Domains

Peptidase_C2aa 46–339UCSCCalpain family cysteine protease
Calpain_IIIaa 359–520UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144691.4
p.E563E
c.1689G>A
Surrounding Variants
1 paper
NM_144691.4
p.L575V
c.1723C>G
1 paper
NM_144691.4
p.L579M
c.1735C>A
1 paper
NM_144691.4
p.A582D
c.1745C>A
1 paper
NM_144691.4
p.H585Y
c.1753C>T
1 paper
NM_144691.4
p.P589L
c.1766C>T
1 paper
NM_144691.4
p.D537Y
c.1609G>T
1 paper
NM_144691.4
p.L618L
c.1854C>G
1 paper
NM_144691.4
p.L622delFs
c.1866delG
1 paper
NM_144691.4
p.Q626_A627Splc
c.1878+2T>G
1 paper
NM_144691.4
p.E644K
c.1930G>A
1 paper
NM_144691.4
p.E522K
c.1564G>A
1 paper
NM_144691.4
p.A507S
c.1519G>T
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."