Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G74_D79delins

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.G74_D79delins
c.221_237delinsTCCCCTGACCGGGTTAGAGT
Surrounding Variants
1 paper
NM_000330.4
p.G74_D79Fs
c.221_237delinsTCCCCTGACCGGGFs
8 papers
NM_000330.4
p.Q80*
c.238C>T
2 papers
NM_000330.4
p.Q80H
c.240G>T
2 papers
NM_000330.4
p.Q80H
c.240G>C
3 papers
NM_000330.4
p.I81N
c.242T>A
1 paper
NM_000330.4
p.T82delFs
c.244_245delGT
2 papers
NM_000330.4
p.V76G
c.227T>G
1 paper
NM_000330.4
p.C83R
c.247T>C
3 papers
NM_000330.4
p.C83S
c.247T>A
1 paper
NM_000330.4
p.V76D
c.227T>A
3 papers
NM_000330.4
p.C83S
c.248G>C
5 papers
NM_000330.4
p.E75*
c.223G>T
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."