Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.D27A

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
1 paper
NM_006308.3
p.D27A
c.80A>C
Surrounding Variants
1 paper
NM_006308.3
p.D27D
c.81C>T
3 papers
NM_006308.3
p.D27N
c.79G>A
1 paper
NM_006308.3
p.D27_C28insG
c.79_83ins3
1 paper
NM_006308.3
p.C28R
c.82T>C
1 paper
NM_006308.3
p.E26V
c.77A>T
1 paper
NM_006308.3
p.C28S
c.83G>C
1 paper
NM_006308.3
p.C28insFs
c.83_84insA
1 paper
NM_006308.3
p.C28*
c.84C>A
1 paper
NM_006308.3
p.E26K
c.76G>A
1 paper
NM_006308.3
p.L25L
c.75A>G
1 paper
NM_006308.3
p.L25L
c.75A>T
1 paper
NM_006308.3
p.R29W
c.85A>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."