Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N326N

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.N326N
c.978C>T
Surrounding Variants
1 paper
NM_000539.3
p.N326T
c.977A>C
2 papers
NM_000539.3
p.N326S
c.977A>G
2 papers
NM_000539.3
p.P327delFs
c.980delC
2 papers
NM_000539.3
p.P327delFs
c.979_980delCC
1 paper
NM_000539.3
p.N326_L328delFs
c.978_982del5
3 papers
NM_000539.3
p.P327fs
c.979_980fs
1 paper
NM_000539.3
p.P327A
c.979C>G
2 papers
NM_000539.3
p.P327fs
c.979_980fs
2 papers
NM_000539.3
p.N326fs
c.976_977fs
3 papers
NM_000539.3
p.P327_L328delFs
c.979_982del4
1 paper
NM_000539.3
p.P327P
c.981A>G
1 paper
NM_000539.3
p.P327P
c.981A>T
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