Varaico: Literature-Extracted Genetic Variants

Gene:USF3
Variant:p.K521R

USF3

166 papers

RefSeq Summary

This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided b...

Pfam Domains

HLHaa 19–70UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

upstream transcription factor family member 3

HGNC Previous Symbol

KIAA2018

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009899.4
p.K521R
c.1562A>G
Surrounding Variants
1 paper
NM_001009899.4
p.M530L
c.1588A>T
1 paper
NM_001009899.4
p.M530L
c.1588A>C
1 paper
NM_001009899.4
p.M535I
c.1605G>T
1 paper
NM_001009899.4
p.M535I
c.1605G>C
1 paper
NM_001009899.4
p.M535I
c.1605G>A
1 paper
NM_001009899.4
p.P538S
c.1612C>T
1 paper
NM_001009899.4
p.V543F
c.1627G>T
1 paper
NM_001009899.4
p.Q493*
c.1477C>T
3 papers
NM_001009899.4
p.V491delFs
c.1472_1473delAA
4 papers
NM_001009899.4
p.P490_V491delFs
c.1470_1473del4
1 paper
NM_001009899.4
p.V491delFs
c.1471_1472delAC
2 papers
NM_001009899.4
p.P490_V491del1
c.1470_1472delACT
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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."