Varaico: Literature-Extracted Genetic Variants

Gene:HSPB3
Variant:p.F80L

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.F80L
c.240C>A
Surrounding Variants
1 paper
NM_006308.3
p.F80L
c.240C>G
3 papers
NM_006308.3
p.L81F
c.241C>T
1 paper
NM_006308.3
p.F80L
c.238T>C
1 paper
NM_006308.3
p.L81P
c.242T>C
1 paper
NM_006308.3
p.L81L
c.243C>G
1 paper
NM_006308.3
p.F80del1
c.238_239delTTC
1 paper
NM_006308.3
p.P82L
c.245C>T
1 paper
NM_006308.3
p.Q79fs
c.235_236fs
1 paper
NM_006308.3
p.P82delFs
c.246delT
1 paper
NM_006308.3
p.E83delFs
c.247delG
1 paper
NM_006308.3
p.E83K
c.247G>A
1 paper
NM_006308.3
p.E83Q
c.247G>C
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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."