Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.P111S

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.P111S
c.331C>T
Surrounding Variants
1 paper
NM_001319074.4
p.R110H
c.329G>A
1 paper
NM_001319074.4
p.L106_P111del6
c.316_332del18
2 papers
NM_001319074.4
p.P112insFs
c.335dupC
1 paper
NM_001319074.4
p.A109T
c.325G>A
3 papers
NM_001319074.4
p.A113fs
c.337_338fs
1 paper
NM_001319074.4
p.P107T
c.319C>A
1 paper
NM_001319074.4
p.E119D
c.357G>T
1 paper
NM_001319074.4
p.E119D
c.357G>C
2 papers
NM_001319074.4
p.G125E
c.374G>A
1 paper
NM_001319074.4
p.A96S
c.286G>T
1 paper
NM_001319074.4
p.V95M
c.283G>A
7 papers
NM_001319074.4
p.R87Q
c.260G>A
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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."