Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Q117_D118insFs

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
2 papers
NM_000330.4
p.Q117_D118insFs
c.351_352insT
Surrounding Variants
1 paper
NM_000330.4
p.Q117H
c.351G>T
1 paper
NM_000330.4
p.D118fs
c.352_353fs
1 paper
NM_000330.4
p.Q117*
c.349C>T
1 paper
NM_000330.4
p.D118Fs
c.354delinsGGTGTGCCFs
1 paper
NM_000330.4
p.D118Fs
c.354delinsGGTGTGCCTGGCTCTCCAFs
2 papers
NM_000330.4
p.D118delFs
c.354delG
1 paper
NM_000330.4
p.D118_S119delFs
c.354_355delTG
1 paper
NM_000330.4
p.S114F
c.341C>T
2 papers
NM_000330.4
p.Q121delFs
c.362delT
2 papers
NM_000330.4
p.W122*
c.365G>A
7 papers
NM_000330.4
p.L113F
c.337C>T
1 paper
NM_000330.4
p.L113fs
c.337_338fs
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