Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.*349E

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
23 papers
NM_000539.3
p.*349E
c.1045T>G
Surrounding Variants
10 papers
NM_000539.3
p.*349Q
c.1045T>C
1 paper
NM_000539.3
p.*349S
c.1046A>C
1 paper
NM_000539.3
p.A348D
c.1043C>A
1 paper
NM_000539.3
p.A348V
c.1043C>T
1 paper
NM_000539.3
p.P347P
c.1041G>A
23 papers
NM_000539.3
p.P347Q
c.1040C>A
27 papers
NM_000539.3
p.P347R
c.1040C>G
220 papers
NM_000539.3
p.P347L
c.1040C>T
19 papers
NM_000539.3
p.P347T
c.1039C>A
3 papers
NM_000539.3
p.P347fs
c.1039_1040fs
24 papers
NM_000539.3
p.P347A
c.1039C>G
140 papers
NM_000539.3
p.P347S
c.1039C>T
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