Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E122*

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.E122*
c.364G>T
Surrounding Variants
3 papers
NM_000539.3
p.E122K
c.364G>A
23 papers
NM_000539.3
p.E122Q
c.364G>C
6 papers
NM_000539.3
p.E122A
c.365A>C
7 papers
NM_000539.3
p.E122G
c.365A>G
8 papers
NM_000539.3
p.E122D
c.366A>C
8 papers
NM_000539.3
p.E122D
c.366A>T
2 papers
NM_000539.3
p.G121V
c.362G>T
1 paper
NM_000539.3
p.G121Splc
c.362-1G>A
1 paper
NM_000539.3
p.G121Splc
c.362-2A>C
1 paper
NM_000539.3
p.G121Splc
c.362-3C>T
3 papers
NM_000539.3
p.A124T
c.370G>A
1 paper
NM_000539.3
p.A124G
c.371C>G
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