Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R213delFs

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
9 papers
NM_000330.4
p.R213delFs
c.639delC
Surrounding Variants
1 paper
NM_000330.4
p.R213P
c.638G>C
29 papers
NM_000330.4
p.R213Q
c.638G>A
7 papers
NM_000330.4
p.E215Q
c.643G>C
2 papers
NM_000330.4
p.E215K
c.643G>A
57 papers
NM_000330.4
p.R213W
c.637C>T
10 papers
NM_000330.4
p.E215V
c.644A>T
1 paper
NM_000330.4
p.E215G
c.644A>G
1 paper
NM_000330.4
p.I212N
c.635T>A
13 papers
NM_000330.4
p.L216P
c.647T>C
1 paper
NM_000330.4
p.A211V
c.632C>T
1 paper
NM_000330.4
p.A211delins
c.631_632delinsTT
3 papers
NM_000330.4
p.A211T
c.631G>A
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