Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V81_A82del1

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.V81_A82del1
c.242_244delTGG
Surrounding Variants
1 paper
NM_000539.3
p.A80A
c.240C>G
1 paper
NM_000539.3
p.A80A
c.240C>T
2 papers
NM_000539.3
p.V81M
c.241G>A
1 paper
NM_000539.3
p.V81fs
c.241_242fs
2 papers
NM_000539.3
p.A80S
c.238G>T
4 papers
NM_000539.3
p.V81E
c.242T>A
4 papers
NM_000539.3
p.V81A
c.242T>C
1 paper
NM_000539.3
p.V81G
c.242T>G
2 papers
NM_000539.3
p.V81V
c.243G>A
2 papers
NM_000539.3
p.A82T
c.244G>A
9 papers
NM_000539.3
p.L79P
c.236T>C
1 paper
NM_000539.3
p.L79insFs
c.236_237insG
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