Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W92G

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
1 paper
NM_000330.4
p.W92G
c.274T>G
Surrounding Variants
1 paper
NM_000330.4
p.W92S
c.275G>C
2 papers
NM_000330.4
p.W92*
c.275G>A
11 papers
NM_000330.4
p.W92C
c.276G>T
3 papers
NM_000330.4
p.G91V
c.272G>T
12 papers
NM_000330.4
p.W92C
c.276G>C
2 papers
NM_000330.4
p.W92*
c.276G>A
1 paper
NM_000330.4
p.Y89_W92delFs
c.265_275del11
2 papers
NM_000330.4
p.G91C
c.271G>T
2 papers
NM_000330.4
p.Y93C
c.278A>G
8 papers
NM_000330.4
p.Y89*
c.267T>G
10 papers
NM_000330.4
p.Y89*
c.267T>A
3 papers
NM_000330.4
p.Y89delFs
c.266delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."