Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.Q278H

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
1 paper
NM_001012720.2
p.Q278H
c.834G>C
Surrounding Variants
1 paper
NM_001012720.2
p.Q278H
c.834G>T
1 paper
NM_001012720.2
p.C279insFs
c.836dupG
1 paper
NM_001012720.2
p.W277L
c.830G>T
2 papers
NM_002921.4
p.I280N
c.839T>A
NM_001012720.2
p.I276N
c.827T>A
5 papers
NM_002921.4
p.I280fs
c.838_839fs
NM_001012720.2
p.I276fs
c.826_827fs
1 paper
NM_001012720.2
p.G275fs
c.823_824fs
6 papers
NM_002921.4
p.G279insFs
c.836dupG
NM_001012720.2
p.G275insFs
c.824dupG
1 paper
NM_002921.4
p.D292insFs
c.874dupG
1 paper
NM_001012720.2
p.A266insFs
c.796_797insCC
2 papers
NM_002921.4
p.Y269C
c.806A>G
NM_001012720.2
p.Y265C
c.794A>G
1 paper
NM_002921.4
p.I267fs
c.799_800fs
1 paper
NM_002921.4
p.A266insFs
c.796_797insCC
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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."