Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.A57A

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
Selected Variant
2 papers
NM_144617.3
p.A57A
c.171A>T
Surrounding Variants
1 paper
NM_144617.3
p.P58S
c.172C>T
3 papers
NM_144617.3
p.L55Q
c.164T>A
1 paper
NM_144617.3
p.Y54C
c.161A>G
1 paper
NM_144617.3
p.Y53insFs
c.157dupT
1 paper
NM_144617.3
p.Y53fs
c.157_158fs
1 paper
NM_144617.3
p.P63A
c.187C>G
1 paper
NM_144617.3
p.A51S
c.151G>T
1 paper
NM_144617.3
p.T48fs
c.142_143fs
1 paper
NM_144617.3
p.P47insFs
c.141dupC
7 papers
NM_144617.3
p.C46S
c.137G>C
7 papers
NM_144617.3
p.C46S
c.136T>A
1 paper
NM_144617.3
p.A44P
c.130G>C
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