Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M163I

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.M163I
c.489G>A
Surrounding Variants
2 papers
NM_000539.3
p.M163I
c.489G>C
2 papers
NM_000539.3
p.M163I
c.489G>T
5 papers
NM_000539.3
p.A164S
c.490G>T
8 papers
NM_000539.3
p.M163T
c.488T>C
2 papers
NM_000539.3
p.M163R
c.488T>G
1 paper
NM_000539.3
p.M163fs
c.487_488fs
22 papers
NM_000539.3
p.A164E
c.491C>A
39 papers
NM_000539.3
p.A164V
c.491C>T
2 papers
NM_000539.3
p.V162V
c.486C>G
1 paper
NM_000539.3
p.V162V
c.486C>T
1 paper
NM_000539.3
p.A164A
c.492G>A
1 paper
NM_000539.3
p.V162insFs
c.485_486insA
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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."