Varaico: Literature-Extracted Genetic Variants

Gene:HSF2
Variant:p.R43L

HSF2

60 papers

RefSeq Summary

The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription facto...

Pfam Domains

HSF_DNA-bindaa 10–110UCSCHSF-type DNA-binding
Vert_HS_TFaa 230–501UCSCVertebrate heat shock transcription factor

Gene Aliases

HGNC Name

heat shock transcription factor 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004506.4
p.R43L
c.128G>T
Surrounding Variants
1 paper
NM_004506.4
p.R43Q
c.128G>A
1 paper
NM_004506.4
p.A45_K46delFs
c.135_136delAA
1 paper
NM_004506.4
p.D40A
c.119A>C
1 paper
NM_004506.4
p.P50R
c.149C>G
2 papers
NM_004506.4
p.Q34Q
c.102A>G
1 paper
NM_004506.4
p.G33S
c.97G>A
1 paper
NM_004506.4
p.H55R
c.164A>G
1 paper
NM_004506.4
p.Q31_N32Splc
c.94-3C>A
1 paper
NM_004506.4
p.A59A
c.177A>G
1 paper
NM_004506.4
p.R63S
c.189G>C
1 paper
NM_004506.4
p.R63S
c.189G>T
1 paper
NM_004506.4
p.R71C
c.211C>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."