Varaico: Literature-Extracted Genetic Variants

Gene:USF3

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
1–12 of 192 variants
20 papers
NM_001009899.4
p.Q1472_Q1473del1
c.4416_4418delTGC
15 papers
NM_001009899.4
p.Q1478del1
c.4432_4433delTTG
10 papers
NM_001009899.4
p.Q1470_Q1473del0
c.4410_4418del9
8 papers
NM_001009899.4
p.Q1471_Q1473del0
c.4413_4418del6
6 papers
NM_001009899.4
p.N1016fs
c.3046_3047fs
4 papers
NM_001009899.4
p.P222A
c.664C>G
4 papers
NM_001009899.4
p.P490_V491delFs
c.1470_1473del4
4 papers
NM_001009899.4
p.N1016fs
c.3046_3047fs
4 papers
NM_001009899.4
p.N1016insFs
c.3047dupA
4 papers
NM_001009899.4
p.Q1470_Q1473del4
c.4408_4418del12
3 papers
NM_001009899.4
p.P490_V491delFs
c.1470_1471delCT
3 papers
NM_001009899.4
p.V491delFs
c.1472_1473delAA
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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."