Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.I86N

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.I86N
c.257T>A
Surrounding Variants
1 paper
NM_006308.3
p.I87F
c.259A>T
1 paper
NM_006308.3
p.I85T
c.254T>C
1 paper
NM_006308.3
p.I87T
c.260T>C
1 paper
NM_006308.3
p.Q88L
c.263A>T
1 paper
NM_006308.3
p.D84delFs
c.252delC
1 paper
NM_006308.3
p.Q88delFs
c.264delG
1 paper
NM_006308.3
p.D84Y
c.250G>T
1 paper
NM_006308.3
p.E83A
c.248A>C
2 papers
NM_006308.3
p.T89I
c.266C>T
1 paper
NM_006308.3
p.E83K
c.247G>A
1 paper
NM_006308.3
p.E83Q
c.247G>C
1 paper
NM_006308.3
p.E83_D84insA
c.247_251ins3
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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."