Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R21L

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.R21L
c.62G>T
Surrounding Variants
2 papers
NM_000539.3
p.R21H
c.62G>A
1 paper
NM_000539.3
p.R21P
c.62G>C
1 paper
NM_000539.3
p.R21_F24delFs
c.63_72del10
9 papers
NM_000539.3
p.R21C
c.61C>T
3 papers
NM_000539.3
p.S22R
c.64A>C
1 paper
NM_000539.3
p.V20V
c.60A>G
2 papers
NM_000539.3
p.S22N
c.65G>A
2 papers
NM_000539.3
p.S22T
c.65G>C
2 papers
NM_000539.3
p.P23insFs
c.69dupC
1 paper
NM_000539.3
p.V20A
c.59T>C
49 papers
NM_000539.3
p.V20G
c.59T>G
3 papers
NM_000539.3
p.S22R
c.66C>A
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