Varaico: Literature-Extracted Genetic Variants

Gene:HSF1
Variant:p.L189P

HSF1

220 papers

RefSeq Summary

The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespa...

Pfam Domains

HSF_DNA-bindaa 18–118UCSCHSF-type DNA-binding
Vert_HS_TFaa 247–529UCSCVertebrate heat shock transcription factor

Gene Aliases

HGNC Name

heat shock transcription factor 1

HGNC Alias Symbol

HSTF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005526.4
p.L189P
c.566T>C
Surrounding Variants
2 papers
NM_005526.4
p.R201Q
c.602G>A
1 paper
NM_005526.4
p.Q183*
c.547C>T
1 paper
NM_005526.4
p.Q182*
c.544C>T
1 paper
NM_005526.4
p.A180_Q181insFs
c.540_541insG
1 paper
NM_005526.4
p.A180V
c.539C>T
1 paper
NM_005526.4
p.H179R
c.536A>G
2 papers
NM_005526.4
p.H179Y
c.535C>T
1 paper
NM_005526.4
p.K178E
c.532A>G
1 paper
NM_005526.4
p.V172G
c.515T>G
1 paper
NM_005526.4
p.E171D
c.513G>C
1 paper
NM_005526.4
p.E171D
c.513G>T
1 paper
NM_005526.4
p.E171A
c.512A>C
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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."