Varaico: Literature-Extracted Genetic Variants

Gene:RRH
Variant:p.K52N

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.K52N
c.156G>C
Surrounding Variants
1 paper
NM_006583.5
p.K52N
c.156G>T
1 paper
NM_006583.5
p.I72insFs
c.214dupA
1 paper
NM_006583.5
p.A96S
c.286G>T
1 paper
NM_006583.5
p.C98Y
c.293G>A
1 paper
NM_006583.5
p.G103E
c.308G>A
1 paper
NM_006583.5
p.I106fs
c.316_317fs
1 paper
NM_006583.5
p.F108insFs
c.324dupT
1 paper
NM_006583.5
p.I106delFs
c.317delT
1 paper
NM_006583.5
p.F108fs
c.322_323fs
1 paper
NM_006583.5
p.F108fs
c.322_323fs
1 paper
NM_006583.5
p.G109fs
c.325_326fs
1 paper
NM_006583.5
p.G114E
c.341G>A
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