Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.I133F

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.I133F
c.397A>T
Surrounding Variants
2 papers
NM_000330.4
p.S134P
c.400T>C
2 papers
NM_000330.4
p.G135R
c.403G>C
2 papers
NM_000330.4
p.G135R
c.403G>A
1 paper
NM_000330.4
p.K131Q
c.391A>C
1 paper
NM_000330.4
p.I130delFs
c.390delG
2 papers
NM_000330.4
p.G135V
c.404G>T
3 papers
NM_000330.4
p.G135E
c.404G>A
1 paper
NM_000330.4
p.G135G
c.405G>A
6 papers
NM_000330.4
p.I136T
c.407T>C
1 paper
NM_000330.4
p.E129V
c.386A>T
1 paper
NM_000330.4
p.L137F
c.409C>T
6 papers
NM_000330.4
p.L137P
c.410T>C
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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."