Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E215V

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
10 papers
NM_000330.4
p.E215V
c.644A>T
Surrounding Variants
1 paper
NM_000330.4
p.E215G
c.644A>G
7 papers
NM_000330.4
p.E215Q
c.643G>C
2 papers
NM_000330.4
p.E215K
c.643G>A
13 papers
NM_000330.4
p.L216P
c.647T>C
9 papers
NM_000330.4
p.R213delFs
c.639delC
1 paper
NM_000330.4
p.R213P
c.638G>C
29 papers
NM_000330.4
p.R213Q
c.638G>A
57 papers
NM_000330.4
p.R213W
c.637C>T
1 paper
NM_000330.4
p.I212N
c.635T>A
10 papers
NM_000330.4
p.C219G
c.655T>G
7 papers
NM_000330.4
p.C219R
c.655T>C
2 papers
NM_000330.4
p.C219S
c.655T>A
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