Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R200H

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
16 papers
NM_000330.4
p.R200H
c.599G>A
Surrounding Variants
1 paper
NM_000330.4
p.R200L
c.599G>T
1 paper
NM_000330.4
p.R200P
c.599G>C
41 papers
NM_000330.4
p.R200C
c.598C>T
6 papers
NM_000330.4
p.R200S
c.598C>A
1 paper
NM_000330.4
p.L201ins1
c.601_602insATG
1 paper
NM_000330.4
p.F198_R200ins1
c.592_600dup9
1 paper
NM_000330.4
p.I199I
c.597C>A
1 paper
NM_000330.4
p.F198_R200del0
c.592_600del9
7 papers
NM_000330.4
p.I199T
c.596T>C
1 paper
NM_000330.4
p.F198delFs
c.593delA
2 papers
NM_000330.4
p.I202I
c.606C>T
1 paper
NM_000330.4
p.F198fs
c.592_593fs
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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."