Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.T149P

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.T149P
c.445A>C
Surrounding Variants
1 paper
NM_000330.4
p.M148R
c.443T>G
1 paper
NM_000330.4
p.M148T
c.443T>C
3 papers
NM_000330.4
p.W147*
c.441G>A
3 papers
NM_000330.4
p.W147*
c.440G>A
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
5 papers
NM_000330.4
p.E146D
c.438G>T
5 papers
NM_000330.4
p.E146D
c.438G>C
1 paper
NM_000330.4
p.E146delFs
c.437delT
1 paper
NM_000330.4
p.D143_E146del0
c.429_437del9
2 papers
NM_000330.4
p.Y151S
c.452A>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."