Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G107insFs

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.G107insFs
c.319_320insA
Surrounding Variants
1 paper
NM_000330.4
p.G107fs
c.319_320fs
1 paper
NM_000330.4
p.G107delFs
c.320delC
2 papers
NM_000330.4
p.Q106*
c.316C>T
4 papers
NM_000330.4
p.Q106insFs
c.316_317insA
6 papers
NM_000330.4
p.F108C
c.323T>G
1 paper
NM_000330.4
p.S105T
c.314G>C
3 papers
NM_000330.4
p.G109W
c.325G>T
15 papers
NM_000330.4
p.G109R
c.325G>C
3 papers
NM_000330.4
p.G109R
c.325G>A
1 paper
NM_000330.4
p.S105C
c.313A>T
3 papers
NM_000330.4
p.G109A
c.326G>C
2 papers
NM_000330.4
p.G109E
c.326G>A
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