Varaico: Literature-Extracted Genetic Variants

Gene:USF1
Variant:p.Q159*

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
3 papers
NM_007122.5
p.Q159*
c.475C>T
Surrounding Variants
2 papers
NM_007122.5
p.F160F
c.480C>T
1 paper
NM_007122.5
p.G158Splc
c.473-8C>T
1 paper
NM_007122.5
p.S165A
c.493T>G
1 paper
NM_007122.5
p.Q167L
c.500A>T
1 paper
NM_007122.5
p.E168*
c.502G>T
1 paper
NM_007122.5
p.G172R
c.514G>C
1 paper
NM_007122.5
p.G172E
c.515G>A
1 paper
NM_007122.5
p.S177L
c.530C>T
1 paper
NM_007122.5
p.I178L
c.532A>C
1 paper
NM_007122.5
p.T182insFs
c.544_545ins5
1 paper
NM_007122.5
p.Y185Y
c.555T>C
2 papers
NM_007122.5
p.T153A
c.457A>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."