Varaico: Literature-Extracted Genetic Variants

Gene:USF3
Variant:p.C1257S

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.C1257S
c.3769T>A
Surrounding Variants
1 paper
NM_001009899.4
p.C1257S
c.3770G>C
1 paper
NM_001009899.4
p.S1225F
c.3674C>T
1 paper
NM_001009899.4
p.Q1311H
c.3933G>T
1 paper
NM_001009899.4
p.Q1311H
c.3933G>C
1 paper
NM_001009899.4
p.S1323T
c.3968G>C
1 paper
NM_001009899.4
p.D1326N
c.3976G>A
1 paper
NM_001009899.4
p.A1328T
c.3982G>A
1 paper
NM_001009899.4
p.D1173G
c.3518A>G
1 paper
NM_001009899.4
p.S1168L
c.3503C>T
1 paper
NM_001009899.4
p.L1354F
c.4060C>T
1 paper
NM_001009899.4
p.T1366P
c.4096A>C
1 paper
NM_001009899.4
p.Q1372E
c.4114C>G
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