Varaico: Literature-Extracted Genetic Variants

Gene:USF3
Variant:p.P490_V491delFs

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
4 papers
NM_001009899.4
p.P490_V491delFs
c.1470_1473del4
Surrounding Variants
3 papers
NM_001009899.4
p.V491delFs
c.1472_1473delAA
1 paper
NM_001009899.4
p.V491delFs
c.1471_1472delAC
2 papers
NM_001009899.4
p.P490_V491del1
c.1470_1472delACT
3 papers
NM_001009899.4
p.P490_V491delFs
c.1470_1471delCT
1 paper
NM_001009899.4
p.Q493*
c.1477C>T
1 paper
NM_001009899.4
p.S468G
c.1402A>G
1 paper
NM_001009899.4
p.T467K
c.1400C>A
1 paper
NM_001009899.4
p.K521R
c.1562A>G
1 paper
NM_001009899.4
p.T455T
c.1365T>A
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.P450P
c.1350A>G
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