Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.S95L

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.S95L
c.284C>T
Surrounding Variants
1 paper
NM_000330.4
p.S95*
c.284C>A
1 paper
NM_000330.4
p.S94_S95del1
c.282_284delGAA
1 paper
NM_000330.4
p.W96G
c.286T>G
22 papers
NM_000330.4
p.W96R
c.286T>C
22 papers
NM_000330.4
p.W96R
c.286T>A
1 paper
NM_000330.4
p.S95delFs
c.285delC
1 paper
NM_000330.4
p.W96fs
c.286_287fs
1 paper
NM_000330.4
p.W96insFs
c.286dupT
6 papers
NM_000330.4
p.W96*
c.287G>A
1 paper
NM_000330.4
p.S95del1
c.283_284delCGA
3 papers
NM_000330.4
p.W96C
c.288G>T
4 papers
NM_000330.4
p.W96C
c.288G>C
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