Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.L120P

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.L120P
c.359T>C
Surrounding Variants
1 paper
NM_006308.3
p.P121L
c.362C>T
1 paper
NM_006308.3
p.K119E
c.355A>G
1 paper
NM_006308.3
p.D122A
c.365A>C
1 paper
NM_006308.3
p.Y118N
c.352T>A
1 paper
NM_006308.3
p.D122E
c.366T>A
10 papers
NM_006308.3
p.Y118H
c.352T>C
1 paper
NM_006308.3
p.Y118_K119insGT
c.352_356ins6
2 papers
NM_006308.3
p.G123S
c.367G>A
2 papers
NM_006308.3
p.Q117H
c.351G>C
1 paper
NM_006308.3
p.G123C
c.367G>T
1 paper
NM_006308.3
p.Y118del1
c.352_353delTAC
1 paper
NM_006308.3
p.Q117R
c.350A>G
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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."