Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A124G

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.A124G
c.371C>G
Surrounding Variants
1 paper
NM_000539.3
p.A124V
c.371C>T
1 paper
NM_000539.3
p.A124A
c.372C>T
3 papers
NM_000539.3
p.A124T
c.370G>A
3 papers
NM_000539.3
p.L125P
c.374T>C
30 papers
NM_000539.3
p.L125R
c.374T>G
1 paper
NM_000539.3
p.L128_L131delFs
c.383_392del10
8 papers
NM_000539.3
p.E122D
c.366A>C
8 papers
NM_000539.3
p.E122D
c.366A>T
1 paper
NM_000539.3
p.W126R
c.376T>A
1 paper
NM_000539.3
p.W126R
c.376T>C
1 paper
NM_000539.3
p.W126G
c.376T>G
6 papers
NM_000539.3
p.E122A
c.365A>C
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