Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V137V

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.V137V
c.411G>A
Surrounding Variants
22 papers
NM_000539.3
p.V137M
c.409G>A
1 paper
NM_000539.3
p.V138A
c.413T>C
18 papers
NM_000539.3
p.Y136*
c.408C>A
17 papers
NM_000539.3
p.Y136*
c.408C>G
1 paper
NM_000539.3
p.Y136Y
c.408C>T
1 paper
NM_000539.3
p.V137delFs
c.409delG
1 paper
NM_000539.3
p.V138V
c.414G>C
1 paper
NM_000539.3
p.Y136C
c.407A>G
2 papers
NM_000539.3
p.V137_P142del6
c.409_425del18
1 paper
NM_000539.3
p.Y136H
c.406T>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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