Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M44L

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
2 papers
NM_000539.3
p.M44L
c.130A>T
Surrounding Variants
3 papers
NM_000539.3
p.M44L
c.130A>C
22 papers
NM_000539.3
p.M44T
c.131T>C
2 papers
NM_000539.3
p.Y43C
c.128A>G
2 papers
NM_000539.3
p.Y43F
c.128A>T
1 paper
NM_000539.3
p.M44I
c.132G>A
1 paper
NM_000539.3
p.M44I
c.132G>C
1 paper
NM_000539.3
p.M44I
c.132G>T
1 paper
NM_000539.3
p.F45I
c.133T>A
47 papers
NM_000539.3
p.F45L
c.133T>C
2 papers
NM_000539.3
p.F45Y
c.134T>A
2 papers
NM_000539.3
p.A42V
c.125C>T
45 papers
NM_000539.3
p.F45L
c.135T>A
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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."