Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.C195S

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
2 papers
NM_014365.3
p.C195S
c.584G>C
Surrounding Variants
2 papers
NM_014365.3
p.C195S
c.583T>A
7 papers
NM_014365.3
p.T194fs
c.580_581fs
2 papers
NM_014365.3
p.E192_V193Fs
c.576_579delinsCAGFs
7 papers
NM_014365.3
p.V193_T194insFs
c.577_580dup4
2 papers
NM_014365.3
p.E192fs
c.574_575fs
1 paper
NM_014365.3
p.S190R
c.570C>G
1 paper
NM_014365.3
p.D189A
c.566A>C
1 paper
NM_014365.3
p.Q188R
c.563A>G
2 papers
NM_014365.3
p.Q188fs
c.562_563fs
1 paper
NM_014365.3
p.P187L
c.560C>T
3 papers
NM_014365.3
p.Q188delFs
c.562delC
1 paper
NM_014365.3
p.E185K
c.553G>A
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