Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G329S

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.G329S
c.985G>A
Surrounding Variants
1 paper
NM_000539.3
p.G329R
c.985G>C
1 paper
NM_000539.3
p.G329D
c.986G>A
1 paper
NM_000539.3
p.L328L
c.984G>C
16 papers
NM_000539.3
p.L328P
c.983T>C
1 paper
NM_000539.3
p.L328R
c.983T>G
2 papers
NM_000539.3
p.L328fs
c.982_983fs
1 paper
NM_000539.3
p.D330N
c.988G>A
1 paper
NM_000539.3
p.D330A
c.989A>C
1 paper
NM_000539.3
p.P327P
c.981A>G
1 paper
NM_000539.3
p.D330G
c.989A>G
1 paper
NM_000539.3
p.P327P
c.981A>T
2 papers
NM_000539.3
p.L328delFs
c.982delC
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