Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Y65delFs

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
3 papers
NM_000330.4
p.Y65delFs
c.194delT
Surrounding Variants
6 papers
NM_000330.4
p.Y65*
c.195T>G
6 papers
NM_000330.4
p.Y65*
c.195T>A
1 paper
NM_000330.4
p.Y65delFs
c.195delA
5 papers
NM_000330.4
p.Y65C
c.194A>G
1 paper
NM_000330.4
p.Y65H
c.193T>C
1 paper
NM_000330.4
p.Y65fs
c.193_194fs
1 paper
NM_000330.4
p.P64_Y65insT
c.190_194ins3
1 paper
NM_000330.4
p.C63*
c.189C>A
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
5 papers
NM_000330.4
p.C63R
c.187T>C
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