Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.L190Q

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.L190Q
c.569T>A
Surrounding Variants
2 papers
NM_000330.4
p.L190P
c.569T>C
2 papers
NM_000330.4
p.R191P
c.572G>C
1 paper
NM_000330.4
p.R191Q
c.572G>A
36 papers
NM_000330.4
p.P192S
c.574C>T
2 papers
NM_000330.4
p.P192A
c.574C>G
1 paper
NM_000330.4
p.R191_P192ins1
c.573_574insGAG
4 papers
NM_000330.4
p.P192T
c.574C>A
3 papers
NM_000330.4
p.R191delFs
c.573delC
7 papers
NM_000330.4
p.P192L
c.575C>T
2 papers
NM_000330.4
p.P192R
c.575C>G
1 paper
NM_000330.4
p.P192insFs
c.575_576insT
2 papers
NM_000330.4
p.P192H
c.575C>A
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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."