Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C223Y

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
6 papers
NM_000330.4
p.C223Y
c.668G>A
Surrounding Variants
6 papers
NM_000330.4
p.C223S
c.668G>C
18 papers
NM_000330.4
p.C223R
c.667T>C
6 papers
NM_000330.4
p.C223S
c.667T>A
1 paper
NM_000330.4
p.C223fs
c.667_668fs
2 papers
NM_000330.4
p.K222N
c.666G>T
1 paper
NM_000330.4
p.K222fs
c.664_665fs
1 paper
NM_000330.4
p.K222insFs
c.665dupA
2 papers
NM_000330.4
p.K222N
c.666G>C
1 paper
NM_000330.4
p.A224V
c.671C>T
1 paper
NM_000330.4
p.K222fs
c.664_665fs
2 papers
NM_000330.4
p.S221insFs
c.663dupC
1 paper
NM_000330.4
p.S221R
c.663C>G
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