Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.A402delFs

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.A402delFs
c.1205delC
Surrounding Variants
2 papers
NM_001257096.2
p.P404insFs
c.1212dupC
1 paper
NM_001257096.2
p.L401_A406delFs
c.1201_1216del16
2 papers
NM_001257096.2
p.G405fs
c.1213_1214fs
1 paper
NM_001257096.2
p.P394Q
c.1181C>A
1 paper
NM_001257096.2
p.V410_R426del0
c.1229_1276del48
1 paper
NM_001257096.2
p.W393S
c.1178G>C
1 paper
NM_001257096.2
p.W393R
c.1177T>A
1 paper
NM_001257096.2
p.W393R
c.1177T>C
3 papers
NM_001257096.2
p.P392fs
c.1174_1175fs
1 paper
NM_001257096.2
p.P391fs
c.1171_1172fs
1 paper
NM_001257096.2
p.P391insFs
c.1171_1172ins4
6 papers
NM_001257096.2
p.P391_P392insFs
c.1173_1174ins5
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."