Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P303S

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
2 papers
NM_000539.3
p.P303S
c.907C>T
Surrounding Variants
1 paper
NM_000539.3
p.P303A
c.907C>G
2 papers
NM_000539.3
p.P303_V304delins
c.907_911delinsGC
5 papers
NM_000539.3
p.P303R
c.908C>G
1 paper
NM_000539.3
p.N302K
c.906C>G
1 paper
NM_000539.3
p.P303L
c.908C>T
2 papers
NM_000539.3
p.N302T
c.905A>C
1 paper
NM_000539.3
p.N302_P303delFs
c.906_907delCC
1 paper
NM_000539.3
p.N302Y
c.904A>T
3 papers
NM_000539.3
p.V304L
c.910G>C
3 papers
NM_000539.3
p.V304D
c.911T>A
1 paper
NM_000539.3
p.V304A
c.911T>C
2 papers
NM_000539.3
p.Y301F
c.902A>T
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