Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L79P

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
9 papers
NM_000539.3
p.L79P
c.236T>C
Surrounding Variants
1 paper
NM_000539.3
p.L79insFs
c.236_237insG
1 paper
NM_000539.3
p.L79L
c.235C>T
2 papers
NM_000539.3
p.N78K
c.234C>A
2 papers
NM_000539.3
p.N78K
c.234C>G
1 paper
NM_000539.3
p.N78N
c.234C>T
2 papers
NM_000539.3
p.A80S
c.238G>T
2 papers
NM_000539.3
p.N78T
c.233A>C
1 paper
NM_000539.3
p.N78S
c.233A>G
16 papers
NM_000539.3
p.N78I
c.233A>T
2 papers
NM_000539.3
p.L79delFs
c.235delC
1 paper
NM_000539.3
p.N78H
c.232A>C
2 papers
NM_000539.3
p.N78Y
c.232A>T
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