Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.P193insFs

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
5 papers
NM_000330.4
p.P193insFs
c.578_579insCC
Surrounding Variants
8 papers
NM_000330.4
p.I194fs
c.580_581fs
25 papers
NM_000330.4
p.P193insFs
c.579dupC
2 papers
NM_000330.4
p.P193delFs
c.579delG
2 papers
NM_000330.4
p.P193del1
c.577_579delGGG
7 papers
NM_000330.4
p.I194N
c.581T>A
15 papers
NM_000330.4
p.P193L
c.578C>T
1 paper
NM_000330.4
p.P193R
c.578C>G
1 paper
NM_000330.4
p.I194fs
c.580_581fs
11 papers
NM_000330.4
p.P193S
c.577C>T
2 papers
NM_000330.4
p.P193insFs
c.577_578insT
1 paper
NM_000330.4
p.P193T
c.577C>A
1 paper
NM_000330.4
p.I195V
c.583A>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."