Varaico: Literature-Extracted Genetic Variants

Gene:HSPB6
Variant:p.A135V

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
1 paper
NM_144617.3
p.A135V
c.404C>T
Surrounding Variants
1 paper
NM_144617.3
p.P138delFs
c.414delG
1 paper
NM_144617.3
p.E139fs
c.415_416fs
1 paper
NM_144617.3
p.A130S
c.388G>T
1 paper
NM_144617.3
p.V127fs
c.379_380fs
1 paper
NM_144617.3
p.P125insFs
c.374dupC
1 paper
NM_144617.3
p.A146T
c.436G>A
2 papers
NM_144617.3
p.A147T
c.439G>A
1 paper
NM_144617.3
p.R122H
c.365G>A
1 paper
NM_144617.3
p.Y121C
c.362A>G
7 papers
NM_144617.3
p.R120G
c.358C>G
1 paper
NM_144617.3
p.P154P
c.462A>C
2 papers
NM_144617.3
p.P155fs
c.463_464fs
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