Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L119Q

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.L119Q
c.356T>A
Surrounding Variants
1 paper
NM_000539.3
p.L119R
c.356T>G
2 papers
NM_000539.3
p.G120delFs
c.359delG
2 papers
NM_000539.3
p.L119M
c.355C>A
1 paper
NM_000539.3
p.L119V
c.355C>G
1 paper
NM_000539.3
p.L119L
c.355C>T
2 papers
NM_000539.3
p.L119L
c.357G>A
2 papers
NM_000539.3
p.G120fs
c.358_359fs
2 papers
NM_000539.3
p.T118S
c.353C>G
2 papers
NM_000539.3
p.G120D
c.359G>A
4 papers
NM_000539.3
p.T118A
c.352A>G
2 papers
NM_000539.3
p.T118S
c.352A>T
2 papers
NM_000539.3
p.G120G
c.360C>A
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