Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C110S

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.C110S
c.329G>C
Surrounding Variants
18 papers
NM_000330.4
p.C110Y
c.329G>A
1 paper
NM_000330.4
p.C110insFs
c.329dupG
1 paper
NM_000330.4
p.C110fs
c.328_329fs
1 paper
NM_000330.4
p.C110G
c.328T>G
5 papers
NM_000330.4
p.C110R
c.328T>C
3 papers
NM_000330.4
p.C110C
c.330T>C
2 papers
NM_000330.4
p.C110*
c.330T>A
1 paper
NM_000330.4
p.C110S
c.328T>A
1 paper
NM_000330.4
p.C110fs
c.328_329fs
1 paper
NM_000330.4
p.G109_C110del1
c.327_329delCAC
1 paper
NM_000330.4
p.A111P
c.331G>C
1 paper
NM_000330.4
p.A111T
c.331G>A
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