Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G90D

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
136 papers
NM_000539.3
p.G90D
c.269G>A
Surrounding Variants
1 paper
NM_000539.3
p.G90A
c.269G>C
27 papers
NM_000539.3
p.G90V
c.269G>T
5 papers
NM_000539.3
p.G90S
c.268G>A
3 papers
NM_000539.3
p.G90R
c.268G>C
1 paper
NM_000539.3
p.G90C
c.268G>T
1 paper
NM_000539.3
p.F91I
c.271T>A
1 paper
NM_000539.3
p.G89G
c.267T>C
1 paper
NM_000539.3
p.F91L
c.271T>C
2 papers
NM_000539.3
p.F91V
c.271T>G
1 paper
NM_000539.3
p.F91_L95del0
c.272_283del12
56 papers
NM_000539.3
p.G89D
c.266G>A
2 papers
NM_000539.3
p.G89A
c.266G>C
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