Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S98A

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.S98A
c.292T>G
Surrounding Variants
1 paper
NM_000539.3
p.S98C
c.293C>G
1 paper
NM_000539.3
p.T97N
c.290C>A
8 papers
NM_000539.3
p.T97I
c.290C>T
3 papers
NM_000539.3
p.T97A
c.289A>G
1 paper
NM_000539.3
p.L99V
c.295C>G
1 paper
NM_000539.3
p.L99_F103del0
c.297_308del12
1 paper
NM_000539.3
p.Y96Y
c.288C>T
3 papers
NM_000539.3
p.L99P
c.296T>C
1 paper
NM_000539.3
p.Y96S
c.287A>C
1 paper
NM_000539.3
p.L95_T97Fs
c.285_291delinsCTGTATFs
3 papers
NM_000539.3
p.H100N
c.298C>A
4 papers
NM_000539.3
p.H100P
c.299A>C
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