Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I218I

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.I218I
c.654C>T
Surrounding Variants
2 papers
NM_000539.3
p.I218delFs
c.654delC
1 paper
NM_000539.3
p.I218F
c.652A>T
1 paper
NM_000539.3
p.F221delFs
c.662delT
1 paper
NM_000539.3
p.I217M
c.651T>G
14 papers
NM_000539.3
p.F220L
c.658T>C
2 papers
NM_000539.3
p.I217S
c.650T>G
1 paper
NM_000539.3
p.I217V
c.649A>G
1 paper
NM_000539.3
p.I217F
c.649A>T
28 papers
NM_000539.3
p.F220C
c.659T>G
1 paper
NM_000539.3
p.I217_I219del3
c.649_656del9
15 papers
NM_000539.3
p.F220L
c.660T>A
14 papers
NM_000539.3
p.F220L
c.660T>G
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