Varaico: Literature-Extracted Genetic Variants

Gene:USF1
Variant:p.G3Splc

USF1

135 papers

RefSeq Summary

This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-r...

Pfam Domains

HLHaa 200–255UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

upstream transcription factor 1

HGNC Alias Symbols

UEF; MLTFI; bHLHb11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007122.5
p.G3Splc
c.9-88A>G
Surrounding Variants
1 paper
NM_007122.5
p.E12E
c.36G>A
1 paper
NM_007122.5
p.E19G
c.56A>G
1 paper
NM_007122.5
p.G20Splc
c.58+10A>T
1 paper
NM_007122.5
p.G20Splc
c.58+33C>T
1 paper
NM_007122.5
p.M1I
c.3G>C
2 papers
NM_007122.5
p.M1K
c.2T>A
1 paper
NM_007122.5
p.A21A
c.63A>T
1 paper
NM_007122.5
p.D27E
c.81C>A
1 paper
NM_007122.5
p.T29A
c.85A>G
1 paper
NM_007122.5
p.S35N
c.104G>A
1 paper
NM_007122.5
p.A39V
c.116C>T
1 paper
NM_007122.5
p.P45S
c.133C>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."