Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Q106insFs

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
4 papers
NM_000330.4
p.Q106insFs
c.316_317insA
Surrounding Variants
2 papers
NM_000330.4
p.Q106*
c.316C>T
1 paper
NM_000330.4
p.S105T
c.314G>C
1 paper
NM_000330.4
p.G107insFs
c.319_320insA
1 paper
NM_000330.4
p.S105C
c.313A>T
1 paper
NM_000330.4
p.N104N
c.312C>T
6 papers
NM_000330.4
p.N104K
c.312C>G
5 papers
NM_000330.4
p.N104K
c.312C>A
1 paper
NM_000330.4
p.G107fs
c.319_320fs
1 paper
NM_000330.4
p.G107delFs
c.320delC
6 papers
NM_000330.4
p.F108C
c.323T>G
1 paper
NM_000330.4
p.L103L
c.309C>G
6 papers
NM_000330.4
p.R102_L103ins0
c.306_308dupGCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."