Varaico: Literature-Extracted Genetic Variants

Gene:HSPB2

HSPB2

41 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 protein is expres...

Pfam Domains

Crystallinaa 10–54UCSCAlpha crystallin A chain, N terminal
HSP20aa 66–163UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

heat shock protein family B (small) member 2

HGNC Alias Symbols

Hs.78846; MKBP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
6 papers
NM_001541.4
p.G111S
c.331G>A
6 papers
NM_001541.4
p.P182L
c.545C>T
4 papers
NM_001541.4
p.P182S
c.544C>T
2 papers
NM_001541.4
p.R119H
c.356G>A
1 paper
NM_001541.4
p.M1L
c.1A>C
1 paper
NM_001541.4
p.M1L
c.1A>T
1 paper
NM_001541.4
p.M1I
c.3G>A
1 paper
NM_001541.4
p.P7R
c.20C>G
1 paper
NM_001541.4
p.A14T
c.40G>A
1 paper
NM_001541.4
p.F29F
c.87C>T
1 paper
NM_001541.4
p.L34fs
c.100_101fs
1 paper
NM_001541.4
p.E36K
c.106G>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."