Varaico: Literature-Extracted Genetic Variants

Gene:RRH
Variant:p.I244delFs

RRH

48 papers

RefSeq Summary

Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and ...

Pfam Domains

7tm_1aa 42–294UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

retinal pigment epithelium-derived rhodopsin homolog

HGNC Alias Symbol

peropsin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006583.5
p.I244delFs
c.730delA
Surrounding Variants
2 papers
NM_006583.5
p.I244V
c.730A>G
1 paper
NM_006583.5
p.I244delFs
c.731delT
1 paper
NM_006583.5
p.I244Fs
c.730_731delinsGFs
1 paper
NM_006583.5
p.I244S
c.731T>G
1 paper
NM_006583.5
p.S242T
c.724T>A
1 paper
NM_006583.5
p.K240_M241Splc
c.721-3C>G
1 paper
NM_006583.5
p.S254P
c.760T>C
1 paper
NM_006583.5
p.I258V
c.772A>G
1 paper
NM_006583.5
p.D267H
c.799G>C
2 papers
NM_006583.5
p.T287I
c.860C>T
1 paper
NM_006583.5
p.I293S
c.878T>G
2 papers
NM_006583.5
p.R302W
c.904C>T
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