Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I275V

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.I275V
c.823A>G
Surrounding Variants
1 paper
NM_000539.3
p.I275L
c.823A>C
2 papers
NM_000539.3
p.Y274F
c.821A>T
3 papers
NM_000539.3
p.F276V
c.826T>G
1 paper
NM_000539.3
p.F276_S281delFs
c.827_843del17
1 paper
NM_000539.3
p.F273L
c.819C>A
1 paper
NM_000539.3
p.F273L
c.819C>G
1 paper
NM_000539.3
p.F273F
c.819C>T
1 paper
NM_000539.3
p.F276F
c.828C>T
2 papers
NM_000539.3
p.T277A
c.829A>G
1 paper
NM_000539.3
p.T277S
c.829A>T
1 paper
NM_000539.3
p.F273L
c.817T>C
1 paper
NM_000539.3
p.F273_F276delFs
c.819_826del8
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