Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.G93A

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
7 papers
NM_014365.3
p.G93A
c.278G>C
Surrounding Variants
1 paper
NM_014365.3
p.E94K
c.280G>A
2 papers
NM_014365.3
p.F91L
c.273C>A
2 papers
NM_014365.3
p.F91L
c.273C>G
2 papers
NM_014365.3
p.P95A
c.283C>G
2 papers
NM_014365.3
p.F91I
c.271T>A
2 papers
NM_014365.3
p.F91L
c.271T>C
1 paper
NM_014365.3
p.F91V
c.271T>G
12 papers
NM_014365.3
p.P90L
c.269C>T
1 paper
NM_014365.3
p.V98G
c.293T>G
3 papers
NM_014365.3
p.C99S
c.295T>A
2 papers
NM_014365.3
p.C99S
c.296G>C
2 papers
NM_014365.3
p.V100M
c.298G>A
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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."