Varaico: Literature-Extracted Genetic Variants

Gene:RS1

RS1

425 papers

RefSeq Summary

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as ...

Pfam Domains

F5_F8_type_Caa 80–216UCSCF5/8 type C domain

Gene Aliases

HGNC Name

retinoschisin 1

HGNC Alias Symbol

XLRS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 553 variants
92 papers
NM_000330.4
p.E72K
c.214G>A
64 papers
NM_000330.4
p.R102W
c.304C>T
57 papers
NM_000330.4
p.R213W
c.637C>T
52 papers
NM_000330.4
p.R102Q
c.305G>A
41 papers
NM_000330.4
p.R200C
c.598C>T
38 papers
NM_000330.4
p.R141C
c.421C>T
37 papers
NM_000330.4
p.R209H
c.626G>A
36 papers
NM_000330.4
p.P192S
c.574C>T
36 papers
NM_000330.4
p.P203L
c.608C>T
35 papers
NM_000330.4
p.R141H
c.422G>A
31 papers
NM_000330.4
p.R209C
c.625C>T
30 papers
NM_000330.4
p.R197C
c.589C>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."