Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Y155*

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.Y155*
c.465C>G
Surrounding Variants
1 paper
NM_000330.4
p.Y155*
c.465C>A
6 papers
NM_000330.4
p.R156G
c.466A>G
4 papers
NM_000330.4
p.Y155C
c.464A>G
1 paper
NM_000330.4
p.Q154H
c.462G>T
1 paper
NM_000330.4
p.Q154H
c.462G>C
13 papers
NM_000330.4
p.Q154R
c.461A>G
1 paper
NM_000330.4
p.Q154P
c.461A>C
9 papers
NM_000330.4
p.Q154*
c.460C>T
1 paper
NM_000330.4
p.Q154E
c.460C>G
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.D158fs
c.472_473fs
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