Varaico: Literature-Extracted Genetic Variants

Gene:USF1
Variant:p.Q280L

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.Q280L
c.839A>T
Surrounding Variants
1 paper
NM_007122.5
p.Q272H
c.816G>T
1 paper
NM_007122.5
p.Q272H
c.816G>C
1 paper
NM_007122.5
p.L271Q
c.812T>A
1 paper
NM_007122.5
p.L271L
c.811C>T
1 paper
NM_007122.5
p.Q266H
c.798G>C
1 paper
NM_007122.5
p.S262S
c.786T>C
1 paper
NM_007122.5
p.L261*
c.782T>A
1 paper
NM_007122.5
p.R260H
c.779G>A
1 paper
NM_007122.5
p.R260C
c.778C>T
1 paper
NM_007122.5
p.R255Q
c.764G>A
1 paper
NM_007122.5
p.E253K
c.757G>A
1 paper
NM_007122.5
p.K246K
c.738A>G
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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."