Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Y89fs

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.Y89fs
c.265_266fs
Surrounding Variants
1 paper
NM_000330.4
p.Q88H
c.264G>T
1 paper
NM_000330.4
p.Q88H
c.264G>C
16 papers
NM_000330.4
p.Y89C
c.266A>G
8 papers
NM_000330.4
p.Y89*
c.267T>G
10 papers
NM_000330.4
p.Y89*
c.267T>A
3 papers
NM_000330.4
p.Y89delFs
c.266delT
1 paper
NM_000330.4
p.Q88*
c.262C>T
2 papers
NM_000330.4
p.G91C
c.271G>T
3 papers
NM_000330.4
p.G91V
c.272G>T
1 paper
NM_000330.4
p.W92G
c.274T>G
3 papers
NM_000330.4
p.N85del1
c.253_254delGTT
1 paper
NM_000330.4
p.W92S
c.275G>C
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