Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.G125E

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
2 papers
NM_001319074.4
p.G125E
c.374G>A
Surrounding Variants
1 paper
NM_001319074.4
p.E119D
c.357G>T
1 paper
NM_001319074.4
p.E119D
c.357G>C
3 papers
NM_001319074.4
p.G137R
c.409G>C
1 paper
NM_001319074.4
p.G137D
c.410G>A
3 papers
NM_001319074.4
p.A113fs
c.337_338fs
2 papers
NM_001319074.4
p.P112insFs
c.335dupC
1 paper
NM_001319074.4
p.L106_P111del6
c.316_332del18
1 paper
NM_001319074.4
p.P111S
c.331C>T
1 paper
NM_001319074.4
p.R110H
c.329G>A
1 paper
NM_001319074.4
p.G141R
c.421G>A
6 papers
NM_001319074.4
p.G139_G141ins1
c.417_422dup6
1 paper
NM_001319074.4
p.G141G
c.423G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."