Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.F114L

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.F114L
c.340T>C
Surrounding Variants
1 paper
NM_006308.3
p.F114V
c.340T>G
1 paper
NM_006308.3
p.F114Y
c.341T>A
1 paper
NM_006308.3
p.S113N
c.338G>A
1 paper
NM_006308.3
p.T115I
c.344C>T
1 paper
NM_006308.3
p.R112K
c.335G>A
1 paper
NM_006308.3
p.R112*
c.334A>T
1 paper
NM_006308.3
p.R116G
c.346C>G
1 paper
NM_006308.3
p.R116*
c.346C>T
1 paper
NM_006308.3
p.R112delFs
c.335_336delGA
1 paper
NM_006308.3
p.R116Q
c.347G>A
9 papers
NM_006308.3
p.R116P
c.347G>C
1 paper
NM_006308.3
p.R116_Q117insFs
c.348_349insC
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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."