Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Y151S

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.Y151S
c.452A>C
Surrounding Variants
1 paper
NM_000330.4
p.Y151D
c.451T>G
2 papers
NM_000330.4
p.Y151H
c.451T>C
2 papers
NM_000330.4
p.Y151N
c.451T>A
1 paper
NM_000330.4
p.S152fs
c.454_455fs
1 paper
NM_000330.4
p.S152fs
c.454_455fs
1 paper
NM_000330.4
p.S152delFs
c.455delC
1 paper
NM_000330.4
p.S152delFs
c.456delG
2 papers
NM_000330.4
p.V153G
c.458T>G
1 paper
NM_000330.4
p.V153A
c.458T>C
1 paper
NM_000330.4
p.T149P
c.445A>C
9 papers
NM_000330.4
p.Q154*
c.460C>T
1 paper
NM_000330.4
p.Q154E
c.460C>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."