Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.P23H

RAX2

63 papers

RefSeq Summary

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulation...

Pfam Domains

Homeodomainaa 28–84UCSCHomeodomain

Gene Aliases

HGNC Name

retina and anterior neural fold homeobox 2

HGNC Previous Symbol

RAXL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001319074.4
p.P23H
c.68C>A
Surrounding Variants
1 paper
NM_001319074.4
p.P23insFs
c.69dupC
1 paper
NM_001319074.4
p.K25R
c.74A>G
1 paper
NM_001319074.4
p.K26Q
c.76A>C
1 paper
NM_001319074.4
p.R28W
c.82C>T
1 paper
NM_001319074.4
p.R29S
c.87G>T
1 paper
NM_001319074.4
p.R29S
c.87G>C
1 paper
NM_001319074.4
p.G17R
c.49G>A
1 paper
NM_001319074.4
p.L16Q
c.47T>A
1 paper
NM_001319074.4
p.N30T
c.89A>C
1 paper
NM_001319074.4
p.N30insFs
c.89dupA
2 papers
NM_001319074.4
p.R31H
c.92G>A
1 paper
NM_001319074.4
p.G14R
c.40G>C
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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."