Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.L142L

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.L142L
c.424C>T
Surrounding Variants
6 papers
NM_001319074.4
p.G139_G141ins1
c.417_422dup6
1 paper
NM_001319074.4
p.G141G
c.423G>A
1 paper
NM_001319074.4
p.G141R
c.421G>A
1 paper
NM_001319074.4
p.G137D
c.410G>A
3 papers
NM_001319074.4
p.G137R
c.409G>C
1 paper
NM_001319074.4
p.G147G
c.441G>A
1 paper
NM_001319074.4
p.P153L
c.458C>T
1 paper
NM_001319074.4
p.A156T
c.466G>A
4 papers
NM_001319074.4
p.A156fs
c.466_467fs
2 papers
NM_001319074.4
p.G125E
c.374G>A
1 paper
NM_001319074.4
p.F159_A160insTAA
c.475_479ins9
4 papers
NM_001319074.4
p.F155_F159delFs
c.465_475del11
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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."