Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.V16L

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.V16L
c.46G>C
Surrounding Variants
1 paper
NM_001368894.2
p.V16F
c.46G>T
2 papers
NM_001368894.2
p.V16I
c.46G>A
3 papers
NM_001368894.2
p.F15L
c.45T>G
1 paper
NM_001368894.2
p.V16G
c.47T>G
1 paper
NM_001368894.2
p.V16A
c.47T>C
3 papers
NM_001368894.2
p.F15L
c.45T>A
1 paper
NM_001368894.2
p.V16D
c.47T>A
1 paper
NM_001368894.2
p.F15C
c.44T>G
2 papers
NM_001368894.2
p.F15S
c.44T>C
1 paper
NM_001368894.2
p.F15Y
c.44T>A
1 paper
NM_001368894.2
p.F15V
c.43T>G
3 papers
NM_001368894.2
p.F15L
c.43T>C
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