Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6

HSPB6

91 papers

RefSeq Summary

This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012].

Pfam Domains

Crystallinaa 3–62UCSCAlpha crystallin A chain, N terminal
HSP20aa 66–158UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 6

HGNC Alias Symbols

FLJ32389; Hsp20; PPP1R91

Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
14 papers
NM_144617.3
p.P20L
c.59C>T
7 papers
NM_144617.3
p.C46S
c.136T>A
7 papers
NM_144617.3
p.C46S
c.137G>C
7 papers
NM_144617.3
p.R120G
c.358C>G
4 papers
NM_144617.3
p.S10F
c.29C>T
3 papers
NM_144617.3
p.G34R
c.100G>C
3 papers
NM_144617.3
p.L55Q
c.164T>A
2 papers
NM_144617.3
p.Q31L
c.92A>T
2 papers
NM_144617.3
p.E41K
c.121G>A
2 papers
NM_144617.3
p.A57A
c.171A>T
2 papers
NM_144617.3
p.A147T
c.439G>A
2 papers
NM_144617.3
p.P155fs
c.463_464fs
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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."