Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q236K

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.Q236K
c.706C>A
Surrounding Variants
1 paper
NM_000539.3
p.Q236_Q237insG
c.706_710ins3
1 paper
NM_000539.3
p.A235D
c.704C>A
1 paper
NM_000539.3
p.A235G
c.704C>G
1 paper
NM_000539.3
p.A235V
c.704C>T
1 paper
NM_000539.3
p.Q236Q
c.708G>A
1 paper
NM_000539.3
p.A235T
c.703G>A
2 papers
NM_000539.3
p.Q237L
c.710A>T
1 paper
NM_000539.3
p.Q237_S240del0
c.711_719del9
1 paper
NM_000539.3
p.A234G
c.701C>G
1 paper
NM_000539.3
p.Q237Q
c.711G>A
3 papers
NM_000539.3
p.Q237H
c.711G>C
3 papers
NM_000539.3
p.Q237H
c.711G>T
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