Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.L103delins

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.L103delins
c.307_308delinsAA
Surrounding Variants
4 papers
NM_000330.4
p.L103R
c.308T>G
2 papers
NM_000330.4
p.L103F
c.307C>T
1 paper
NM_000330.4
p.L103L
c.309C>G
6 papers
NM_000330.4
p.R102_L103ins0
c.306_308dupGCT
1 paper
NM_000330.4
p.R102P
c.305G>C
52 papers
NM_000330.4
p.R102Q
c.305G>A
64 papers
NM_000330.4
p.R102W
c.304C>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.S105C
c.313A>T
1 paper
NM_000330.4
p.S105T
c.314G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."