Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E72K

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
92 papers
NM_000330.4
p.E72K
c.214G>A
Surrounding Variants
1 paper
NM_000330.4
p.E72*
c.214G>T
6 papers
NM_000330.4
p.E72Q
c.214G>C
5 papers
NM_000330.4
p.E72D
c.216G>T
5 papers
NM_000330.4
p.E72D
c.216G>C
4 papers
NM_000330.4
p.S73P
c.217T>C
1 paper
NM_000330.4
p.S73L
c.218C>T
3 papers
NM_000330.4
p.S73*
c.218C>G
3 papers
NM_000330.4
p.S73*
c.218C>A
1 paper
NM_000330.4
p.G70V
c.209G>T
2 papers
NM_000330.4
p.G70A
c.209G>C
3 papers
NM_000330.4
p.G70D
c.209G>A
1 paper
NM_000330.4
p.S73delFs
c.218delG
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