Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.P392fs

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
3 papers
NM_001257096.2
p.P392fs
c.1174_1175fs
Surrounding Variants
1 paper
NM_001257096.2
p.P391fs
c.1171_1172fs
1 paper
NM_001257096.2
p.W393R
c.1177T>A
1 paper
NM_001257096.2
p.W393R
c.1177T>C
1 paper
NM_001257096.2
p.W393S
c.1178G>C
1 paper
NM_001257096.2
p.P394Q
c.1181C>A
1 paper
NM_001257096.2
p.P391insFs
c.1171_1172ins4
6 papers
NM_001257096.2
p.P391_P392insFs
c.1173_1174ins5
1 paper
NM_001257096.2
p.L387F
c.1159C>T
2 papers
NM_001257096.2
p.Y386*
c.1158C>A
2 papers
NM_001257096.2
p.Y386*
c.1158C>G
2 papers
NM_001257096.2
p.G385_Y386insFs
c.1154_1157dup4
1 paper
NM_001257096.2
p.L401_A406delFs
c.1201_1216del16
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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."