Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.I125R

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.I125R
c.374T>G
Surrounding Variants
1 paper
NM_000330.4
p.I125fs
c.373_374fs
1 paper
NM_000330.4
p.D126fs
c.376_377fs
3 papers
NM_000330.4
p.D126H
c.376G>C
2 papers
NM_000330.4
p.D126G
c.377A>G
1 paper
NM_000330.4
p.Q124R
c.371A>G
2 papers
NM_000330.4
p.I125_D126del1
c.375_377delTCT
1 paper
NM_000330.4
p.Q124*
c.370C>T
1 paper
NM_000330.4
p.D126delFs
c.378delA
2 papers
NM_000330.4
p.I125_D126delFs
c.375_378del4
5 papers
NM_000330.4
p.L127P
c.380T>C
1 paper
NM_000330.4
p.I125_L127delFs
c.375_379del5
6 papers
NM_000330.4
p.W122C
c.366G>T
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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."