Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C264S

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.C264S
c.790T>A
Surrounding Variants
1 paper
NM_000539.3
p.C264S
c.791G>C
2 papers
NM_000539.3
p.I263T
c.788T>C
1 paper
NM_000539.3
p.I263delFs
c.789delC
8 papers
NM_000539.3
p.C264del1
c.790_791delTGC
1 paper
NM_000539.3
p.W265R
c.793T>A
1 paper
NM_000539.3
p.W265R
c.793T>C
1 paper
NM_000539.3
p.W265G
c.793T>G
1 paper
NM_000539.3
p.L262M
c.784C>A
2 papers
NM_000539.3
p.L262L
c.784C>T
1 paper
NM_000539.3
p.V266M
c.796G>A
1 paper
NM_000539.3
p.V266L
c.796G>C
1 paper
NM_000539.3
p.V266L
c.796G>T
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