Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N15D

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
3 papers
NM_000539.3
p.N15D
c.43A>G
Surrounding Variants
1 paper
NM_000539.3
p.N15H
c.43A>C
1 paper
NM_000539.3
p.N15fs
c.43_44fs
65 papers
NM_000539.3
p.N15S
c.44A>G
2 papers
NM_000539.3
p.N15I
c.44A>T
1 paper
NM_000539.3
p.N15_A16delFs
c.45_46delTG
1 paper
NM_000539.3
p.S14S
c.42C>A
1 paper
NM_000539.3
p.N15delFs
c.43delA
1 paper
NM_000539.3
p.N15_A16delFs
c.43_46del4
6 papers
NM_000539.3
p.N15K
c.45T>A
5 papers
NM_000539.3
p.N15K
c.45T>G
1 paper
NM_000539.3
p.A16delFs
c.46delG
1 paper
NM_000539.3
p.A16T
c.46G>A
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