Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.E125D

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.E125D
c.375A>C
Surrounding Variants
1 paper
NM_006308.3
p.E125D
c.375A>T
1 paper
NM_006308.3
p.I126_K127delFs
c.378_379delCA
1 paper
NM_006308.3
p.K127delFs
c.381delA
1 paper
NM_006308.3
p.K127R
c.380A>G
1 paper
NM_006308.3
p.K127_D128ins1
c.381_382insATC
1 paper
NM_006308.3
p.G123G
c.369T>A
1 paper
NM_006308.3
p.G123G
c.369T>C
1 paper
NM_006308.3
p.D128Y
c.382G>T
2 papers
NM_006308.3
p.G123S
c.367G>A
1 paper
NM_006308.3
p.G123C
c.367G>T
1 paper
NM_006308.3
p.D122E
c.366T>A
1 paper
NM_006308.3
p.D122A
c.365A>C
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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."