Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G70D

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
3 papers
NM_000330.4
p.G70D
c.209G>A
Surrounding Variants
1 paper
NM_000330.4
p.G70V
c.209G>T
2 papers
NM_000330.4
p.G70A
c.209G>C
2 papers
NM_000330.4
p.G70R
c.208G>C
20 papers
NM_000330.4
p.G70S
c.208G>A
2 papers
NM_000330.4
p.L69delFs
c.206_207delCA
4 papers
NM_000330.4
p.L69P
c.206T>C
2 papers
NM_000330.4
p.L69fs
c.205_206fs
1 paper
NM_000330.4
p.E72*
c.214G>T
6 papers
NM_000330.4
p.E72Q
c.214G>C
92 papers
NM_000330.4
p.E72K
c.214G>A
3 papers
NM_000330.4
p.P68R
c.203C>G
5 papers
NM_000330.4
p.E72D
c.216G>T
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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."