Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.T138A

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
3 papers
NM_000330.4
p.T138A
c.412A>G
Surrounding Variants
3 papers
NM_000330.4
p.T138N
c.413C>A
6 papers
NM_000330.4
p.L137P
c.410T>C
2 papers
NM_000330.4
p.Q139fs
c.415_416fs
1 paper
NM_000330.4
p.L137F
c.409C>T
1 paper
NM_000330.4
p.Q139R
c.416A>G
6 papers
NM_000330.4
p.I136T
c.407T>C
1 paper
NM_000330.4
p.Q139H
c.417G>T
3 papers
NM_000330.4
p.Q139fs
c.415_416fs
1 paper
NM_000330.4
p.Q139H
c.417G>C
12 papers
NM_000330.4
p.Q139delFs
c.416delT
1 paper
NM_000330.4
p.G140W
c.418G>T
7 papers
NM_000330.4
p.G140R
c.418G>C
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