Varaico: Literature-Extracted Genetic Variants

Gene:ARMS2
Variant:p.E14E

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
Selected Variant
1 paper
NM_001099667.3
p.E14E
c.42G>A
Surrounding Variants
1 paper
NM_001099667.3
p.A13insFs
c.38_39insAT
1 paper
NM_001099667.3
p.A13V
c.38C>T
1 paper
NM_001099667.3
p.M9T
c.26T>C
1 paper
NM_001099667.3
p.M9L
c.25A>T
1 paper
NM_001099667.3
p.E20D
c.60G>T
1 paper
NM_001099667.3
p.M21insFs
c.63dupG
1 paper
NM_001099667.3
p.A22insFs
c.64_65insTG
1 paper
NM_001099667.3
p.G7R
c.19G>A
1 paper
NM_001099667.3
p.G7R
c.19G>C
12 papers
NM_001099667.3
p.R3H
c.8G>A
1 paper
NM_001099667.3
p.R3insFs
c.9dupC
2 papers
NM_001099667.3
p.R3L
c.8G>T
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