Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y268H

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.Y268H
c.802T>C
Surrounding Variants
1 paper
NM_000539.3
p.Y268insFs
c.802_803ins4
1 paper
NM_000539.3
p.A269ins0
c.805_807dupGCC
1 paper
NM_000539.3
p.Y268S
c.803A>C
8 papers
NM_000539.3
p.Y268F
c.803A>T
2 papers
NM_000539.3
p.Y268_A269insFs
c.804_805insG
14 papers
NM_000539.3
p.P267R
c.800C>G
37 papers
NM_000539.3
p.P267L
c.800C>T
1 paper
NM_000539.3
p.Y268Y
c.804C>T
3 papers
NM_000539.3
p.P267T
c.799C>A
2 papers
NM_000539.3
p.P267A
c.799C>G
3 papers
NM_000539.3
p.P267S
c.799C>T
1 paper
NM_000539.3
p.Y268_A269del0
c.802_807del6
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