Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L72H

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.L72H
c.215T>A
Surrounding Variants
3 papers
NM_000539.3
p.N73del1
c.217_218delAAC
1 paper
NM_000539.3
p.N73D
c.217A>G
1 paper
NM_000539.3
p.N73Y
c.217A>T
1 paper
NM_000539.3
p.P71P
c.213T>C
3 papers
NM_000539.3
p.N73S
c.218A>G
3 papers
NM_000539.3
p.N73K
c.219C>A
3 papers
NM_000539.3
p.P71A
c.211C>G
2 papers
NM_000539.3
p.N73K
c.219C>G
2 papers
NM_000539.3
p.P71S
c.211C>T
1 paper
NM_000539.3
p.N73N
c.219C>T
1 paper
NM_000539.3
p.T70T
c.210G>A
2 papers
NM_000539.3
p.Y74H
c.220T>C
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