Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W206G

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.W206G
c.616T>G
Surrounding Variants
1 paper
NM_000330.4
p.W206S
c.617G>C
3 papers
NM_000330.4
p.W206*
c.617G>A
1 paper
NM_000330.4
p.G205_W206delFs
c.615_616delAG
1 paper
NM_000330.4
p.W206C
c.618G>T
1 paper
NM_000330.4
p.W206C
c.618G>C
3 papers
NM_000330.4
p.W206*
c.618G>A
5 papers
NM_000330.4
p.H207D
c.619C>G
1 paper
NM_000330.4
p.F198insFs
c.593_594ins19
1 paper
NM_000330.4
p.H207P
c.620A>C
10 papers
NM_000330.4
p.H207Q
c.621C>G
10 papers
NM_000330.4
p.H207Q
c.621C>A
1 paper
NM_000330.4
p.W206_H207del2
c.616_620del6
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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."