Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.I48T

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.I48T
c.143T>C
Surrounding Variants
1 paper
NM_000539.3
p.I48insFs
c.142_143ins44
1 paper
NM_000539.3
p.I48_V49insFs
c.144_145insT
2 papers
NM_000539.3
p.I48I
c.144C>T
2 papers
NM_000539.3
p.V49M
c.145G>A
1 paper
NM_000539.3
p.L47P
c.140T>C
6 papers
NM_000539.3
p.L47R
c.140T>G
2 papers
NM_000539.3
p.L47V
c.139C>G
2 papers
NM_000539.3
p.L47L
c.139C>T
1 paper
NM_000539.3
p.L46Q
c.137T>A
1 paper
NM_000539.3
p.L50Q
c.149T>A
1 paper
NM_000539.3
p.L46P
c.137T>C
1 paper
NM_000539.3
p.L50P
c.149T>C
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