Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.V147L

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
6 papers
NM_001257096.2
p.V147L
c.439G>C
Surrounding Variants
6 papers
NM_001257096.2
p.V147L
c.439G>T
1 paper
NM_001257096.2
p.V142I
c.424G>A
7 papers
NM_001257096.2
p.N155del1
c.463_464delAAC
1 paper
NM_001257096.2
p.Q139H
c.417G>C
1 paper
NM_001257096.2
p.Q139H
c.417G>T
1 paper
NM_001257096.2
p.N155Y
c.463A>T
1 paper
NM_001257096.2
p.I136N
c.407T>A
1 paper
NM_001257096.2
p.S159A
c.475T>G
1 paper
NM_001257096.2
p.P162L
c.485C>T
1 paper
NM_001257096.2
p.I131_C134del4
c.391_401del12
4 papers
NM_001257096.2
p.G167delFs
c.501delG
1 paper
NM_001257096.2
p.A127A
c.381G>A
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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."