Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E62G

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.E62G
c.185A>G
Surrounding Variants
3 papers
NM_000330.4
p.E62insFs
c.185_186insT
3 papers
NM_000330.4
p.E62fs
c.184_185fs
1 paper
NM_000330.4
p.E62Splc
c.185-1G>C
5 papers
NM_000330.4
p.C63R
c.187T>C
1 paper
NM_000330.4
p.C63S
c.187T>A
1 paper
NM_000330.4
p.E62delFs
c.186delT
1 paper
NM_000330.4
p.C63F
c.188G>T
1 paper
NM_000330.4
p.C63S
c.188G>C
1 paper
NM_000330.4
p.C63Y
c.188G>A
1 paper
NM_000330.4
p.C63*
c.189C>A
1 paper
NM_000330.4
p.P64_Y65insT
c.190_194ins3
1 paper
NM_000330.4
p.Y65H
c.193T>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."