Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G121Splc

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.G121Splc
c.362-33G>T
Surrounding Variants
1 paper
NM_000539.3
p.G121Splc
c.362-34G>A
1 paper
NM_000539.3
p.G121Splc
c.362-36G>A
1 paper
NM_000539.3
p.G121Splc
c.362-25T>C
1 paper
NM_000539.3
p.G121Splc
c.362-23A>T
1 paper
NM_000539.3
p.G121Splc
c.362-21C>T
1 paper
NM_000539.3
p.G121Splc
c.362-19C>G
1 paper
NM_000539.3
p.G121Splc
c.362-17T>G
2 papers
NM_000539.3
p.G121Splc
c.362-10T>C
1 paper
NM_000539.3
p.G121Splc
c.362-8C>A
1 paper
NM_000539.3
p.G121Splc
c.362-61G>T
1 paper
NM_000539.3
p.G121Splc
c.362-62G>C
1 paper
NM_000539.3
p.G121Splc
c.362-3C>T
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