Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I307N

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
20 papers
NM_000539.3
p.I307N
c.920T>A
Surrounding Variants
1 paper
NM_000539.3
p.I307_M308insFs
c.920_923dup4
2 papers
NM_000539.3
p.I307F
c.919A>T
1 paper
NM_000539.3
p.I307M
c.921C>G
1 paper
NM_000539.3
p.Y306*
c.918T>A
1 paper
NM_000539.3
p.Y306Y
c.918T>C
1 paper
NM_000539.3
p.Y306*
c.918T>G
4 papers
NM_000539.3
p.Y306C
c.917A>G
2 papers
NM_000539.3
p.M309L
c.925A>C
2 papers
NM_000539.3
p.M309L
c.925A>T
1 paper
NM_000539.3
p.I305I
c.915C>T
2 papers
NM_000539.3
p.M309K
c.926T>A
1 paper
NM_000539.3
p.M309T
c.926T>C
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