Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P196L

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
4 papers
NM_000539.3
p.P196L
c.587C>T
Surrounding Variants
4 papers
NM_000539.3
p.P196T
c.586C>A
1 paper
NM_000539.3
p.P196S
c.586C>T
1 paper
NM_000539.3
p.P196P
c.588G>A
1 paper
NM_000539.3
p.P196P
c.588G>C
1 paper
NM_000539.3
p.K195K
c.585G>A
1 paper
NM_000539.3
p.E197Q
c.589G>C
1 paper
NM_000539.3
p.E197A
c.590A>C
1 paper
NM_000539.3
p.K195R
c.584A>G
1 paper
NM_000539.3
p.K195M
c.584A>T
1 paper
NM_000539.3
p.E197_N199delFs
c.591_597del7
1 paper
NM_000539.3
p.L194L
c.582C>G
2 papers
NM_000539.3
p.V198A
c.593T>C
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