Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.D165Y

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
2 papers
NM_001012720.2
p.D165Y
c.493G>T
Surrounding Variants
2 papers
NM_002921.4
p.T167I
c.500C>T
NM_001012720.2
p.T163I
c.488C>T
2 papers
NM_001012720.2
p.G169W
c.505G>T
1 paper
NM_001012720.2
p.G159A
c.476G>C
1 paper
NM_001012720.2
p.G159R
c.475G>A
1 paper
NM_001012720.2
p.G159R
c.475G>C
2 papers
NM_001012720.2
p.Y153Y
c.459C>T
1 paper
NM_001012720.2
p.H152P
c.455A>C
5 papers
NM_001012720.2
p.H152N
c.454C>A
2 papers
NM_002921.4
p.L152M
c.454C>A
NM_001012720.2
p.L148M
c.442C>A
1 paper
NM_001012720.2
p.A143_A144Fs
c.429_432delinsGGTFs
2 papers
NM_001012720.2
p.V132L
c.394G>C
2 papers
NM_001012720.2
p.V132L
c.394G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."