Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.S180R

HSPB8

309 papers

RefSeq Summary

The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of thi...

Pfam Domains

HSP20aa 92–180UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 8

HGNC Alias Symbols

H11; E2IG1; HSP22; CMT2L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014365.3
p.S180R
c.540C>G
Surrounding Variants
1 paper
NM_014365.3
p.E179Q
c.535G>C
1 paper
NM_014365.3
p.N184S
c.551A>G
1 paper
NM_014365.3
p.E185K
c.553G>A
6 papers
NM_014365.3
p.T176fs
c.526_527fs
5 papers
NM_014365.3
p.S175_F177delFs
c.525_529del5
3 papers
NM_014365.3
p.Q188delFs
c.562delC
1 paper
NM_014365.3
p.P187L
c.560C>T
1 paper
NM_014365.3
p.Y174fs
c.520_521fs
1 paper
NM_014365.3
p.P173H
c.518C>A
2 papers
NM_014365.3
p.P173L
c.518C>T
2 papers
NM_014365.3
p.Q188fs
c.562_563fs
1 paper
NM_014365.3
p.Q188R
c.563A>G
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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."