Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C142C

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
2 papers
NM_000330.4
p.C142C
c.426T>C
Surrounding Variants
8 papers
NM_000330.4
p.C142W
c.426T>G
2 papers
NM_000330.4
p.C142S
c.425G>C
1 paper
NM_000330.4
p.R141insFs
c.423dupC
2 papers
NM_000330.4
p.C142R
c.424T>C
2 papers
NM_000330.4
p.C142S
c.424T>A
9 papers
NM_000330.4
p.D143V
c.428A>T
1 paper
NM_000330.4
p.R141P
c.422G>C
35 papers
NM_000330.4
p.R141H
c.422G>A
5 papers
NM_000330.4
p.T138_R141delFs
c.412_421del10
38 papers
NM_000330.4
p.R141C
c.421C>T
17 papers
NM_000330.4
p.R141G
c.421C>G
1 paper
NM_000330.4
p.R141insFs
c.421_422insA
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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."