Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I321L

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
2 papers
NM_000539.3
p.I321L
c.961A>C
Surrounding Variants
2 papers
NM_000539.3
p.I321V
c.961A>G
1 paper
NM_000539.3
p.I321insFs
c.961dupA
2 papers
NM_000539.3
p.I321N
c.962T>A
11 papers
NM_000539.3
p.T320N
c.959C>A
1 paper
NM_000539.3
p.T320I
c.959C>T
5 papers
NM_000539.3
p.C322S
c.964T>A
1 paper
NM_000539.3
p.C322R
c.964T>C
1 paper
NM_000539.3
p.T319T
c.957C>T
1 paper
NM_000539.3
p.C322Y
c.965G>A
5 papers
NM_000539.3
p.C322S
c.965G>C
1 paper
NM_000539.3
p.C322delins
c.965_966delinsAA
1 paper
NM_000539.3
p.T319N
c.956C>A
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