Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.W16*

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
1 paper
NM_001257096.2
p.W16*
c.47G>A
Surrounding Variants
1 paper
NM_001257096.2
p.W16*
c.48G>A
1 paper
NM_001257096.2
p.G18delFs
c.53delG
1 paper
NM_001257096.2
p.V14G
c.41T>G
1 paper
NM_001257096.2
p.A20insFs
c.58_59ins7
1 paper
NM_001257096.2
p.G25insFs
c.74_75dupGC
1 paper
NM_001257096.2
p.P26S
c.76C>T
1 paper
NM_001257096.2
p.G6R
c.16G>C
2 papers
NM_001257096.2
p.K2T
c.5A>C
1 paper
NM_001257096.2
p.M1K
c.2T>A
1 paper
NM_001257096.2
p.A32V
c.95C>T
1 paper
NM_001257096.2
p.Q38delFs
c.112delC
1 paper
NM_001257096.2
p.Q38*
c.112C>T
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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."