Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.M1I

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
3 papers
NM_006308.3
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_006308.3
p.M1_A2insFs
c.3_4insT
2 papers
NM_006308.3
p.M1I
c.3G>T
2 papers
NM_006308.3
p.M1T
c.2T>C
1 paper
NM_006308.3
p.M1insFs
c.3dupG
4 papers
NM_006308.3
p.M1insFs
c.2dupT
1 paper
NM_006308.3
p.M1L
c.1A>C
1 paper
NM_006308.3
p.M1V
c.1A>G
1 paper
NM_006308.3
p.M1L
c.1A>T
1 paper
NM_006308.3
p.M1delFs
c.2delT
1 paper
NM_006308.3
p.A2E
c.5C>A
2 papers
NM_006308.3
p.A2G
c.5C>G
1 paper
NM_006308.3
p.A2V
c.5C>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."