Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.R127Q

HSPB1

452 papers

RefSeq Summary

This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and funct...

Pfam Domains

HSP20aa 87–184UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 1

HGNC Alias Symbols

HSP27; HSP28; Hs.76067; Hsp25; CMT2F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001540.5
p.R127Q
c.380G>A
Surrounding Variants
14 papers
NM_001540.5
p.R127L
c.380G>T
2 papers
NM_001540.5
p.R127R
c.379C>A
69 papers
NM_001540.5
p.R127W
c.379C>T
1 paper
NM_001540.5
p.Q128*
c.382C>T
1 paper
NM_001540.5
p.E126A
c.377A>C
11 papers
NM_001540.5
p.Q128R
c.383A>G
1 paper
NM_001540.5
p.E125A
c.374A>C
9 papers
NM_001540.5
p.D129E
c.387C>A
9 papers
NM_001540.5
p.D129E
c.387C>G
1 paper
NM_001540.5
p.E130K
c.388G>A
1 paper
NM_001540.5
p.H131R
c.392A>G
4 papers
NM_001540.5
p.K123*
c.367A>T
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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."