Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C219R

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
7 papers
NM_000330.4
p.C219R
c.655T>C
Surrounding Variants
10 papers
NM_000330.4
p.C219G
c.655T>G
2 papers
NM_000330.4
p.C219S
c.655T>A
2 papers
NM_000330.4
p.C219S
c.656G>C
2 papers
NM_000330.4
p.C219Y
c.656G>A
3 papers
NM_000330.4
p.C219delFs
c.655delA
4 papers
NM_000330.4
p.C219W
c.657C>G
2 papers
NM_000330.4
p.C219*
c.657C>A
1 paper
NM_000330.4
p.S221R
c.661A>C
13 papers
NM_000330.4
p.L216P
c.647T>C
1 paper
NM_000330.4
p.S221R
c.663C>G
1 paper
NM_000330.4
p.S221R
c.663C>A
1 paper
NM_000330.4
p.K222fs
c.664_665fs
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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."