Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R44L

PAX6

773 papers

RefSeq Summary

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, th...

Pfam Domains

PAXaa 4–128UCSC'Paired box' domain
Homeodomainaa 211–267UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 6

HGNC Previous Symbols

AN1; AN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001368894.2
p.R44L
c.131G>T
Surrounding Variants
4 papers
NM_001368894.2
p.R44P
c.131G>C
11 papers
NM_001368894.2
p.R44Q
c.131G>A
1 paper
NM_001368894.2
p.S43delFs
c.128delG
11 papers
NM_001368894.2
p.R44*
c.130C>T
1 paper
NM_001368894.2
p.R44G
c.130C>G
1 paper
NM_001368894.2
p.R44R
c.130C>A
1 paper
NM_001368894.2
p.S43del1
c.127_128delGGA
2 papers
NM_001368894.2
p.D41_S43del3
c.121_128del9
1 paper
NM_001368894.2
p.R38_S43delFs
c.113_129del17
1 paper
NM_001368894.2
p.R44fs
c.130_131fs
1 paper
NM_001368894.2
p.P39_S43del0
c.117_128del12
1 paper
NM_001368894.2
p.I45F
c.133A>T
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