Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C222R

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
21 papers
NM_000539.3
p.C222R
c.664T>C
Surrounding Variants
1 paper
NM_000539.3
p.C222S
c.664T>A
1 paper
NM_000539.3
p.F221F
c.663C>T
1 paper
NM_000539.3
p.C222Y
c.665G>A
1 paper
NM_000539.3
p.C222S
c.665G>C
1 paper
NM_000539.3
p.C222delFs
c.666delC
1 paper
NM_000539.3
p.F221S
c.662T>C
1 paper
NM_000539.3
p.Y223H
c.667T>C
3 papers
NM_000539.3
p.Y223F
c.668A>T
15 papers
NM_000539.3
p.F220L
c.660T>A
14 papers
NM_000539.3
p.F220L
c.660T>G
1 paper
NM_000539.3
p.Y223*
c.669T>A
28 papers
NM_000539.3
p.F220C
c.659T>G
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