Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R135delins

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.R135delins
c.403_405delinsTAC
Surrounding Variants
39 papers
NM_000539.3
p.R135G
c.403C>G
110 papers
NM_000539.3
p.R135W
c.403C>T
11 papers
NM_000539.3
p.R135Q
c.404G>A
1 paper
NM_000539.3
p.E134E
c.402G>A
15 papers
NM_000539.3
p.R135P
c.404G>C
7 papers
NM_000539.3
p.E134D
c.402G>C
76 papers
NM_000539.3
p.R135L
c.404G>T
7 papers
NM_000539.3
p.E134D
c.402G>T
4 papers
NM_000539.3
p.R135delins
c.404_405delinsTT
2 papers
NM_000539.3
p.E134A
c.401A>C
2 papers
NM_000539.3
p.R135R
c.405G>A
2 papers
NM_000539.3
p.R135R
c.405G>T
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