Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L76L

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.L76L
c.226C>T
Surrounding Variants
1 paper
NM_000539.3
p.L76M
c.226C>A
1 paper
NM_000539.3
p.L76R
c.227T>G
1 paper
NM_000539.3
p.I75_L76insFs
c.225_226insC
3 papers
NM_000539.3
p.I75V
c.223A>G
2 papers
NM_000539.3
p.L77F
c.229C>T
1 paper
NM_000539.3
p.Y74Y
c.222C>T
1 paper
NM_000539.3
p.L77H
c.230T>A
3 papers
NM_000539.3
p.Y74C
c.221A>G
1 paper
NM_000539.3
p.N78H
c.232A>C
2 papers
NM_000539.3
p.N78Y
c.232A>T
2 papers
NM_000539.3
p.Y74H
c.220T>C
2 papers
NM_000539.3
p.N78T
c.233A>C
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