Varaico: Literature-Extracted Genetic Variants

Gene:PAX1

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
1–12 of 110 variants
9 papers
NM_001257096.2
p.G166V
c.497G>T
8 papers
NM_001257096.2
p.C368*
c.1104C>A
7 papers
NM_001257096.2
p.N155del1
c.463_464delAAC
6 papers
NM_001257096.2
p.V147L
c.439G>C
6 papers
NM_001257096.2
p.V147L
c.439G>T
6 papers
NM_001257096.2
p.P391_P392insFs
c.1173_1174ins5
4 papers
NM_001257096.2
p.G167delFs
c.501delG
4 papers
NM_001257096.2
p.S168fs
c.502_503fs
4 papers
NM_006192.5
p.A463_R465del3
c.1387_1394del9
3 papers
NM_001257096.2
p.P392fs
c.1174_1175fs
2 papers
NM_001257096.2
p.K2T
c.5A>C
2 papers
NM_001257096.2
p.G166A
c.497G>C
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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."