Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.A83delFs

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.A83delFs
c.247delG
Surrounding Variants
1 paper
NM_014365.3
p.A83A
c.249C>A
3 papers
NM_014365.3
p.E84K
c.250G>A
2 papers
NM_014365.3
p.E84Q
c.250G>C
1 paper
NM_014365.3
p.E84E
c.252G>A
1 paper
NM_014365.3
p.G85R
c.253G>C
1 paper
NM_014365.3
p.G80_V81ins15
c.238_242ins45
1 paper
NM_014365.3
p.F79C
c.236T>G
2 papers
NM_014365.3
p.R78M
c.233G>T
12 papers
NM_014365.3
p.P90L
c.269C>T
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
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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."