Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M1_N2insFs

RHO

2,465 papers

RefSeq Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when lig...

Pfam Domains

Rhodopsin_Naa 2–37UCSCAmino terminal of the G-protein receptor rhodopsin
7tm_1aa 54–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

rhodopsin

HGNC Previous Symbol

RP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000539.3
p.M1_N2insFs
c.3_4insT
Surrounding Variants
2 papers
NM_000539.3
p.M1I
c.3G>A
1 paper
NM_000539.3
p.M1I
c.3G>C
2 papers
NM_000539.3
p.N2D
c.4A>G
1 paper
NM_000539.3
p.M1K
c.2T>A
2 papers
NM_000539.3
p.M1T
c.2T>C
1 paper
NM_000539.3
p.M1R
c.2T>G
1 paper
NM_000539.3
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
1 paper
NM_000539.3
p.M1insFs
c.2dupT
5 papers
NM_000539.3
p.M1V
c.1A>G
4 papers
NM_000539.3
p.N2S
c.5A>G
1 paper
NM_000539.3
p.M1Fs
c.1delinsAAFs
1 paper
NM_000539.3
p.M1_G6delFs
c.1_16del16
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."