Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G140W

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.G140W
c.418G>T
Surrounding Variants
7 papers
NM_000330.4
p.G140R
c.418G>C
7 papers
NM_000330.4
p.G140R
c.418G>A
1 paper
NM_000330.4
p.Q139H
c.417G>T
3 papers
NM_000330.4
p.Q139fs
c.415_416fs
1 paper
NM_000330.4
p.Q139H
c.417G>C
6 papers
NM_000330.4
p.G140E
c.419G>A
12 papers
NM_000330.4
p.Q139delFs
c.416delT
1 paper
NM_000330.4
p.Q139R
c.416A>G
2 papers
NM_000330.4
p.Q139fs
c.415_416fs
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."