Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R174P

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.R174P
c.521G>C
Surrounding Variants
2 papers
NM_000330.4
p.R174delFs
c.520delG
1 paper
NM_000330.4
p.R174fs
c.520_521fs
2 papers
NM_000330.4
p.R174W
c.520C>T
6 papers
NM_000330.4
p.R174_V175Splc
c.522+1G>T
3 papers
NM_000330.4
p.R174_V175Splc
c.522+1G>C
10 papers
NM_000330.4
p.R174_V175Splc
c.522+1G>A
1 paper
NM_000330.4
p.R174_V175Splc
c.522+2T>A
2 papers
NM_000330.4
p.R174_V175Splc
c.522+5G>A
1 paper
NM_000330.4
p.G171E
c.512G>A
2 papers
NM_000330.4
p.G171R
c.511G>C
2 papers
NM_000330.4
p.G171R
c.511G>A
1 paper
NM_000330.4
p.Q169H
c.507G>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."