Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P347delins

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.P347delins
c.1039_1041delinsTGC
Surrounding Variants
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
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
1 paper
NM_000539.3
p.A346A
c.1038C>T
1 paper
NM_000539.3
p.A346insFs
c.1037_1038insG
1 paper
NM_000539.3
p.P347P
c.1041G>A
1 paper
NM_000539.3
p.A346T
c.1036G>A
22 papers
NM_000539.3
p.A346P
c.1036G>C
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