Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L40Q

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
3 papers
NM_000539.3
p.L40Q
c.119T>A
Surrounding Variants
3 papers
NM_000539.3
p.L40P
c.119T>C
11 papers
NM_000539.3
p.L40R
c.119T>G
3 papers
NM_000539.3
p.L40M
c.118C>A
2 papers
NM_000539.3
p.L40L
c.118C>T
6 papers
NM_000539.3
p.A41T
c.121G>A
3 papers
NM_000539.3
p.A41S
c.121G>T
1 paper
NM_000539.3
p.M39T
c.116T>C
22 papers
NM_000539.3
p.M39R
c.116T>G
1 paper
NM_000539.3
p.M39L
c.115A>C
1 paper
NM_000539.3
p.M39V
c.115A>G
1 paper
NM_000539.3
p.M39L
c.115A>T
1 paper
NM_000539.3
p.A41A
c.123C>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."