Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F56Y

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
7 papers
NM_000539.3
p.F56Y
c.167T>A
Surrounding Variants
2 papers
NM_000539.3
p.F56C
c.167T>G
21 papers
NM_000539.3
p.N55K
c.165C>A
20 papers
NM_000539.3
p.N55K
c.165C>G
1 paper
NM_000539.3
p.N55N
c.165C>T
1 paper
NM_000539.3
p.L57P
c.170T>C
11 papers
NM_000539.3
p.L57R
c.170T>G
1 paper
NM_000539.3
p.N55H
c.163A>C
1 paper
NM_000539.3
p.N55D
c.163A>G
1 paper
NM_000539.3
p.L57L
c.171C>T
1 paper
NM_000539.3
p.T58A
c.172A>G
2 papers
NM_000539.3
p.T58S
c.172A>T
2 papers
NM_000539.3
p.T58delins
c.172_173delinsTA
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