Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R209C

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
Selected Variant
31 papers
NM_000330.4
p.R209C
c.625C>T
Surrounding Variants
3 papers
NM_000330.4
p.R209G
c.625C>G
1 paper
NM_000330.4
p.R209S
c.625C>A
5 papers
NM_000330.4
p.R209L
c.626G>T
2 papers
NM_000330.4
p.R209P
c.626G>C
37 papers
NM_000330.4
p.R209H
c.626G>A
1 paper
NM_000330.4
p.W206_H207del2
c.616_620del6
1 paper
NM_000330.4
p.I210delFs
c.628delT
10 papers
NM_000330.4
p.H207Q
c.621C>G
10 papers
NM_000330.4
p.H207Q
c.621C>A
1 paper
NM_000330.4
p.H207P
c.620A>C
3 papers
NM_000330.4
p.A211T
c.631G>A
5 papers
NM_000330.4
p.H207D
c.619C>G
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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."