Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W112delFs

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.W112delFs
c.334delA
Surrounding Variants
1 paper
NM_000330.4
p.W112S
c.335G>C
3 papers
NM_000330.4
p.W112*
c.335G>A
18 papers
NM_000330.4
p.W112C
c.336G>T
1 paper
NM_000330.4
p.W112_L113insFs
c.336_337insT
18 papers
NM_000330.4
p.W112C
c.336G>C
4 papers
NM_000330.4
p.W112*
c.336G>A
7 papers
NM_000330.4
p.L113F
c.337C>T
1 paper
NM_000330.4
p.L113fs
c.337_338fs
1 paper
NM_000330.4
p.A111V
c.332C>T
1 paper
NM_000330.4
p.A111P
c.331G>C
1 paper
NM_000330.4
p.A111T
c.331G>A
1 paper
NM_000330.4
p.C110delFs
c.330delA
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