Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R69C

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.R69C
c.205C>T
Surrounding Variants
1 paper
NM_000539.3
p.R69S
c.205C>A
11 papers
NM_000539.3
p.R69H
c.206G>A
2 papers
NM_000539.3
p.L68Q
c.203T>A
6 papers
NM_000539.3
p.L68R
c.203T>G
1 paper
NM_000539.3
p.L68delFs
c.204delG
3 papers
NM_000539.3
p.T70A
c.208A>G
2 papers
NM_000539.3
p.L68M
c.202C>A
1 paper
NM_000539.3
p.L68_R69insA
c.202_206ins3
2 papers
NM_000539.3
p.L68L
c.202C>T
1 paper
NM_000539.3
p.L68fs
c.202_203fs
1 paper
NM_000539.3
p.T70R
c.209C>G
5 papers
NM_000539.3
p.T70M
c.209C>T
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