Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.P203L

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
36 papers
NM_000330.4
p.P203L
c.608C>T
Surrounding Variants
1 paper
NM_000330.4
p.F198ins3
c.593_594ins9
1 paper
NM_000330.4
p.P203Q
c.608C>A
1 paper
NM_000330.4
p.P203A
c.607C>G
2 papers
NM_000330.4
p.I202I
c.606C>T
1 paper
NM_000330.4
p.L204M
c.610C>A
1 paper
NM_000330.4
p.F198insFs
c.593_594ins19
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.F198_R200del0
c.592_600del9
1 paper
NM_000330.4
p.W206G
c.616T>G
1 paper
NM_000330.4
p.R200L
c.599G>T
1 paper
NM_000330.4
p.W206S
c.617G>C
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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."