Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.S66R

RGR

96 papers

RefSeq Summary

This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind r...

Pfam Domains

7tm_1aa 33–265UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

retinal G protein coupled receptor

HGNC Alias Symbol

RP44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
19 papers
NM_001012720.2
p.S66R
c.198C>G
Surrounding Variants
19 papers
NM_001012720.2
p.S66R
c.198C>A
19 papers
NM_001012720.2
p.S66R
c.196A>C
1 paper
NM_001012720.2
p.G64R
c.190G>A
1 paper
NM_001012720.2
p.A72_A73del1
c.216_218delAGC
1 paper
NM_001012720.2
p.A72V
c.215C>T
1 paper
NM_001012720.2
p.S76T
c.227G>C
1 paper
NM_001012720.2
p.L77F
c.229C>T
1 paper
NM_001012720.2
p.L54Q
c.161T>A
3 papers
NM_001012720.2
p.R79Q
c.236G>A
1 paper
NM_001012720.2
p.H52Y
c.154C>T
1 paper
NM_001012720.2
p.P50L
c.149C>T
1 paper
NM_001012720.2
p.R48W
c.142C>T
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