Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R197H

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
25 papers
NM_000330.4
p.R197H
c.590G>A
Surrounding Variants
1 paper
NM_000330.4
p.R197insFs
c.589dupC
1 paper
NM_000330.4
p.R197P
c.590G>C
30 papers
NM_000330.4
p.R197C
c.589C>T
6 papers
NM_000330.4
p.R197S
c.589C>A
1 paper
NM_000330.4
p.S196S
c.588C>T
1 paper
NM_000330.4
p.F198fs
c.592_593fs
1 paper
NM_000330.4
p.S196F
c.587C>T
1 paper
NM_000330.4
p.I195ins0
c.583_585dupATC
1 paper
NM_000330.4
p.F198delFs
c.593delA
7 papers
NM_000330.4
p.I199T
c.596T>C
1 paper
NM_000330.4
p.I199I
c.597C>A
1 paper
NM_000330.4
p.I195V
c.583A>G
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