Varaico: Literature-Extracted Genetic Variants

Gene:HSF1
Variant:p.D48A

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.D48A
c.143A>C
Surrounding Variants
1 paper
NM_005526.4
p.D48G
c.143A>G
1 paper
NM_005526.4
p.D48E
c.144C>A
1 paper
NM_005526.4
p.D48E
c.144C>G
1 paper
NM_005526.4
p.D48N
c.142G>A
1 paper
NM_005526.4
p.D48H
c.142G>C
1 paper
NM_005526.4
p.D48insFs
c.143dupA
1 paper
NM_005526.4
p.F47L
c.141C>A
1 paper
NM_005526.4
p.F47L
c.141C>G
1 paper
NM_005526.4
p.F47F
c.141C>T
1 paper
NM_005526.4
p.H45Q
c.135C>A
1 paper
NM_005526.4
p.H45Q
c.135C>G
1 paper
NM_005526.4
p.H45H
c.135C>T
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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."