Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y192F

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
4 papers
NM_000539.3
p.Y192F
c.575A>T
Surrounding Variants
1 paper
NM_000539.3
p.Y192Y
c.576C>T
2 papers
NM_000539.3
p.Y192fs
c.574_575fs
3 papers
NM_000539.3
p.T193A
c.577A>G
2 papers
NM_000539.3
p.Y192insFs
c.574dupT
1 paper
NM_000539.3
p.Y191Y
c.573C>T
5 papers
NM_000539.3
p.Y191C
c.572A>G
2 papers
NM_000539.3
p.Y191F
c.572A>T
2 papers
NM_000539.3
p.T193K
c.578C>A
18 papers
NM_000539.3
p.T193M
c.578C>T
1 paper
NM_000539.3
p.T193T
c.579G>A
1 paper
NM_000539.3
p.L194_I205del12
c.580_614del36
2 papers
NM_000539.3
p.Y191N
c.571T>A
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