Varaico: Literature-Extracted Genetic Variants

Gene:CAPN11
Variant:p.E545K

CAPN11

48 papers

RefSeq Summary

Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subun...

Pfam Domains

Peptidase_C2aa 80–376UCSCCalpain family cysteine protease
Calpain_IIIaa 395–539UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007058.4
p.E545K
c.1633G>A
Surrounding Variants
1 paper
NM_007058.4
p.R537G
c.1609C>G
1 paper
NM_007058.4
p.D533H
c.1597G>C
3 papers
NM_007058.4
p.I521V
c.1561A>G
1 paper
NM_007058.4
p.F490S
c.1469T>C
1 paper
NM_007058.4
p.A472_V473Splc
c.1417-19C>T
1 paper
NM_007058.4
p.R593G
c.1777A>G
1 paper
NM_007058.4
p.M618T
c.1853T>C
1 paper
NM_007058.4
p.L632F
c.1894C>T
1 paper
NM_007058.4
p.K640E
c.1918A>G
1 paper
NM_007058.4
p.M646_D647Splc
c.1938+131A>T
1 paper
NM_007058.4
p.A472S
c.1414G>T
1 paper
NM_007058.4
p.A461V
c.1382C>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."