Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W163C

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
2 papers
NM_000330.4
p.W163C
c.489G>C
Surrounding Variants
2 papers
NM_000330.4
p.W163C
c.489G>T
12 papers
NM_000330.4
p.W163*
c.489G>A
1 paper
NM_000330.4
p.W163S
c.488G>C
13 papers
NM_000330.4
p.W163*
c.488G>A
1 paper
NM_000330.4
p.I164L
c.490A>C
6 papers
NM_000330.4
p.W163delFs
c.489delC
1 paper
NM_000330.4
p.W163G
c.487T>G
1 paper
NM_000330.4
p.W163R
c.487T>C
1 paper
NM_000330.4
p.W163R
c.487T>A
1 paper
NM_000330.4
p.Y165F
c.494A>T
2 papers
NM_000330.4
p.Y166H
c.496T>C
1 paper
NM_000330.4
p.R160delFs
c.479_480delGC
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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."