Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P215L

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
25 papers
NM_000539.3
p.P215L
c.644C>T
Surrounding Variants
1 paper
NM_000539.3
p.P215R
c.644C>G
8 papers
NM_000539.3
p.P215T
c.643C>A
2 papers
NM_000539.3
p.P215A
c.643C>G
3 papers
NM_000539.3
p.M216delFs
c.646delA
7 papers
NM_000539.3
p.M216L
c.646A>C
7 papers
NM_000539.3
p.M216L
c.646A>T
1 paper
NM_000539.3
p.I214I
c.642C>A
1 paper
NM_000539.3
p.I214I
c.642C>T
15 papers
NM_000539.3
p.M216K
c.647T>A
9 papers
NM_000539.3
p.I214N
c.641T>A
12 papers
NM_000539.3
p.M216R
c.647T>G
1 paper
NM_000539.3
p.I214fs
c.640_641fs
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."