Varaico: Literature-Extracted Genetic Variants

Gene:ARMS2
Variant:p.*108S

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.*108S
c.323G>C
Surrounding Variants
1 paper
NM_001099667.3
p.H103R
c.308A>G
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-13A>G
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-26T>C
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-484G>A
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-746A>G
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-829C>T
1 paper
NM_001099667.3
p.L99_S100Splc
c.298-858T>C
2 papers
NM_001099667.3
p.L99_S100Splc
c.297+881C>T
1 paper
NM_001099667.3
p.L99_S100Splc
c.297+775T>G
1 paper
NM_001099667.3
p.L99_S100Splc
c.297+671T>C
1 paper
NM_001099667.3
p.L99_S100Splc
c.297+658A>G
1 paper
NM_001099667.3
p.L99_S100Splc
c.297+436G>T
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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."