Varaico: Literature-Extracted Genetic Variants

Gene:ARMS2

ARMS2

460 papers

RefSeq Summary

This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related ma...

Gene Aliases

HGNC Name

age-related maculopathy susceptibility 2

HGNC Alias Symbols

LOC387715; ARMD8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
421 papers
NM_001099667.3
p.A69S
c.205G>T
37 papers
NM_001099667.3
p.R38*
c.112C>T
12 papers
NM_001099667.3
p.R3H
c.8G>A
2 papers
NM_001099667.3
p.R3L
c.8G>T
2 papers
NM_001099667.3
p.L99_S100Splc
c.297+881C>T
1 paper
NM_001099667.3
p.M1I
c.3G>C
1 paper
NM_001099667.3
p.R3insFs
c.9dupC
1 paper
NM_001099667.3
p.G7R
c.19G>A
1 paper
NM_001099667.3
p.G7R
c.19G>C
1 paper
NM_001099667.3
p.M9L
c.25A>T
1 paper
NM_001099667.3
p.M9T
c.26T>C
1 paper
NM_001099667.3
p.A13insFs
c.38_39insAT
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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."