Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W92*

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.W92*
c.276G>A
Surrounding Variants
11 papers
NM_000330.4
p.W92C
c.276G>T
12 papers
NM_000330.4
p.W92C
c.276G>C
1 paper
NM_000330.4
p.Y89_W92delFs
c.265_275del11
1 paper
NM_000330.4
p.W92S
c.275G>C
2 papers
NM_000330.4
p.W92*
c.275G>A
1 paper
NM_000330.4
p.W92G
c.274T>G
2 papers
NM_000330.4
p.Y93C
c.278A>G
3 papers
NM_000330.4
p.G91V
c.272G>T
2 papers
NM_000330.4
p.G91C
c.271G>T
1 paper
NM_000330.4
p.S95L
c.284C>T
1 paper
NM_000330.4
p.S95*
c.284C>A
8 papers
NM_000330.4
p.Y89*
c.267T>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."