Varaico: Literature-Extracted Genetic Variants

Gene:USF3
Variant:p.P222A

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.P222A
c.664C>G
Surrounding Variants
1 paper
NM_001009899.4
p.Q211*
c.631C>T
1 paper
NM_001009899.4
p.W209L
c.626G>T
1 paper
NM_001009899.4
p.P203R
c.608C>G
1 paper
NM_001009899.4
p.E245K
c.733G>A
1 paper
NM_001009899.4
p.P195S
c.583C>T
1 paper
NM_001009899.4
p.L192P
c.575T>C
1 paper
NM_001009899.4
p.T189T
c.567T>C
1 paper
NM_001009899.4
p.A181T
c.541G>A
1 paper
NM_001009899.4
p.H266Y
c.796C>T
1 paper
NM_001009899.4
p.Q155*
c.463C>T
1 paper
NM_001009899.4
p.I147fs
c.439_440fs
1 paper
NM_001009899.4
p.I147F
c.439A>T
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