Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.N85del1

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
3 papers
NM_000330.4
p.N85del1
c.253_254delGTT
Surrounding Variants
2 papers
NM_000330.4
p.S84C
c.251C>G
1 paper
NM_000330.4
p.Q88*
c.262C>T
1 paper
NM_000330.4
p.Q88H
c.264G>T
3 papers
NM_000330.4
p.C83S
c.248G>C
1 paper
NM_000330.4
p.Q88H
c.264G>C
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.Y89fs
c.265_266fs
1 paper
NM_000330.4
p.T82delFs
c.244_245delGT
16 papers
NM_000330.4
p.Y89C
c.266A>G
8 papers
NM_000330.4
p.Y89*
c.267T>G
10 papers
NM_000330.4
p.Y89*
c.267T>A
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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."