Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.A98_G101Fs

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.A98_G101Fs
c.293_301delinsACFs
Surrounding Variants
1 paper
NM_006308.3
p.A98T
c.292G>A
1 paper
NM_006308.3
p.Q99K
c.295C>A
1 paper
NM_006308.3
p.K97E
c.289A>G
1 paper
NM_006308.3
p.H100N
c.298C>A
1 paper
NM_006308.3
p.G101A
c.302G>C
1 paper
NM_006308.3
p.G101V
c.302G>T
1 paper
NM_006308.3
p.L95insFs
c.285dupG
1 paper
NM_006308.3
p.L95V
c.283C>G
2 papers
NM_006308.3
p.L94L
c.282G>A
1 paper
NM_006308.3
p.L94L
c.280C>T
1 paper
NM_006308.3
p.W93*
c.279G>A
4 papers
NM_006308.3
p.R103K
c.308G>A
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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."