Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.Y174_S175delFs

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.Y174_S175delFs
c.520_523del4
Surrounding Variants
1 paper
NM_014365.3
p.P173fs
c.517_518fs
9 papers
NM_014365.3
p.P173fs
c.517_518fs
1 paper
NM_014365.3
p.P173H
c.518C>A
2 papers
NM_014365.3
p.P173L
c.518C>T
1 paper
NM_014365.3
p.P173insFs
c.518dupC
1 paper
NM_014365.3
p.P172fs
c.514_515fs
1 paper
NM_014365.3
p.Y174fs
c.520_521fs
7 papers
NM_014365.3
p.P172insFs
c.515dupC
1 paper
NM_014365.3
p.P172delFs
c.515delC
5 papers
NM_014365.3
p.S175_F177delFs
c.525_529del5
6 papers
NM_014365.3
p.T176fs
c.526_527fs
12 papers
NM_014365.3
p.Q170fs
c.508_509fs
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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."