Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R102W

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
64 papers
NM_000330.4
p.R102W
c.304C>T
Surrounding Variants
1 paper
NM_000330.4
p.R102P
c.305G>C
52 papers
NM_000330.4
p.R102Q
c.305G>A
1 paper
NM_000330.4
p.A101V
c.302C>T
1 paper
NM_000330.4
p.A101D
c.302C>A
3 papers
NM_000330.4
p.K100delFs
c.300delC
1 paper
NM_000330.4
p.A101P
c.301G>C
1 paper
NM_000330.4
p.A101T
c.301G>A
2 papers
NM_000330.4
p.L103F
c.307C>T
4 papers
NM_000330.4
p.L103R
c.308T>G
1 paper
NM_000330.4
p.L103delins
c.307_308delinsAA
1 paper
NM_000330.4
p.K100delFs
c.298delT
1 paper
NM_000330.4
p.L103L
c.309C>G
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