Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.N99D

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
2 papers
NM_000330.4
p.N99D
c.295A>G
Surrounding Variants
1 paper
NM_000330.4
p.N99fs
c.295_296fs
5 papers
NM_000330.4
p.A98E
c.293C>A
1 paper
NM_000330.4
p.N99delFs
c.296delT
1 paper
NM_000330.4
p.A98T
c.292G>A
1 paper
NM_000330.4
p.K100delFs
c.298delT
1 paper
NM_000330.4
p.A101P
c.301G>C
1 paper
NM_000330.4
p.A101T
c.301G>A
1 paper
NM_000330.4
p.W96delFs
c.288delC
3 papers
NM_000330.4
p.W96C
c.288G>T
4 papers
NM_000330.4
p.W96C
c.288G>C
7 papers
NM_000330.4
p.W96*
c.288G>A
1 paper
NM_000330.4
p.A101V
c.302C>T
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