Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.R44_L45delFs

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.R44_L45delFs
c.131_134del4
Surrounding Variants
1 paper
NM_001257096.2
p.R44fs
c.130_131fs
1 paper
NM_001257096.2
p.L45M
c.133C>A
1 paper
NM_001257096.2
p.G46D
c.137G>A
1 paper
NM_001257096.2
p.Q38*
c.112C>T
1 paper
NM_001257096.2
p.Q38delFs
c.112delC
1 paper
NM_001257096.2
p.S53*
c.158C>A
1 paper
NM_001257096.2
p.A55delFs
c.164delC
1 paper
NM_001257096.2
p.A32V
c.95C>T
1 paper
NM_001257096.2
p.L56fs
c.166_167fs
1 paper
NM_001257096.2
p.P26S
c.76C>T
1 paper
NM_001257096.2
p.G63S
c.187G>A
1 paper
NM_001257096.2
p.G25insFs
c.74_75dupGC
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