Varaico: Literature-Extracted Genetic Variants

Gene:HSPBAP1
Variant:p.S167F

HSPBAP1

38 papers

RefSeq Summary

This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnorma...

Pfam Domains

Cupin_8aa 30–279UCSCCupin-like domain

Gene Aliases

HGNC Name

HSPB1 associated protein 1

HGNC Alias Symbols

FLJ22623; PASS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024610.6
p.S167F
c.500C>T
Surrounding Variants
1 paper
NM_024610.6
p.G152V
c.455G>T
1 paper
NM_024610.6
p.D150N
c.448G>A
1 paper
NM_024610.6
p.W148*
c.444G>A
1 paper
NM_024610.6
p.W148*
c.443G>A
1 paper
NM_024610.6
p.D145V
c.434A>T
1 paper
NM_024610.6
p.R190Splc
c.569+288A>T
1 paper
NM_024610.6
p.P197L
c.590C>T
1 paper
NM_024610.6
p.F217Y
c.650T>A
3 papers
NM_024610.6
p.L243V
c.727C>G
1 paper
NM_024610.6
p.W272R
c.814T>C
1 paper
NM_024610.6
p.W272R
c.814T>A
1 paper
NM_024610.6
p.L142I
c.424C>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."