Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.E11K

HSPB3

795 papers

RefSeq Summary

This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010].

Pfam Domains

HSP20aa 64–150UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 3

HGNC Alias Symbol

HSPL27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006308.3
p.E11K
c.31G>A
Surrounding Variants
1 paper
NM_006308.3
p.I10M
c.30A>G
2 papers
NM_006308.3
p.I10T
c.29T>C
1 paper
NM_006308.3
p.I10insFs
c.28_29insG
1 paper
NM_006308.3
p.L9_I10insFs
c.27_28insG
1 paper
NM_006308.3
p.L9H
c.26T>A
1 paper
NM_006308.3
p.I12I
c.36T>A
1 paper
NM_006308.3
p.P13S
c.37C>T
1 paper
NM_006308.3
p.P13R
c.38C>G
2 papers
NM_006308.3
p.P13L
c.38C>T
1 paper
NM_006308.3
p.H8H
c.24C>T
1 paper
NM_006308.3
p.H8L
c.23A>T
1 paper
NM_006308.3
p.P13P
c.39A>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."