Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.G166V

PAX1

95 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical ...

Pfam Domains

PAXaa 98–222UCSC'Paired box' domain

Gene Aliases

HGNC Name

paired box 1

HGNC Previous Name

paired box gene 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001257096.2
p.G166V
c.497G>T
Surrounding Variants
2 papers
NM_001257096.2
p.G166A
c.497G>C
4 papers
NM_001257096.2
p.G167delFs
c.501delG
4 papers
NM_001257096.2
p.S168fs
c.502_503fs
1 paper
NM_001257096.2
p.P162L
c.485C>T
1 paper
NM_001257096.2
p.R171C
c.511C>T
1 paper
NM_001257096.2
p.S159A
c.475T>G
1 paper
NM_001257096.2
p.P175L
c.524C>T
1 paper
NM_001257096.2
p.N176S
c.527A>G
1 paper
NM_001257096.2
p.N155Y
c.463A>T
7 papers
NM_001257096.2
p.N155del1
c.463_464delAAC
1 paper
NM_001257096.2
p.D183N
c.547G>A
1 paper
NM_001257096.2
p.D183H
c.547G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."