Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.K63delFs

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.K63delFs
c.189delC
Surrounding Variants
1 paper
NM_001319074.4
p.A61T
c.181G>A
1 paper
NM_001319074.4
p.E59K
c.175G>A
1 paper
NM_001319074.4
p.V71G
c.212T>G
1 paper
NM_001319074.4
p.P52L
c.155C>T
5 papers
NM_001319074.4
p.P52R
c.155C>G
5 papers
NM_001319074.4
p.S49P
c.145T>C
1 paper
NM_001319074.4
p.L39P
c.116T>C
2 papers
NM_001319074.4
p.R31H
c.92G>A
1 paper
NM_001319074.4
p.N30insFs
c.89dupA
1 paper
NM_001319074.4
p.N30T
c.89A>C
1 paper
NM_001319074.4
p.R29S
c.87G>T
1 paper
NM_001319074.4
p.R29S
c.87G>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."