Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N199H

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.N199H
c.595A>C
Surrounding Variants
1 paper
NM_000539.3
p.N199D
c.595A>G
1 paper
NM_000539.3
p.V198V
c.594C>G
2 papers
NM_000539.3
p.N199K
c.597C>A
1 paper
NM_000539.3
p.N199K
c.597C>G
2 papers
NM_000539.3
p.V198A
c.593T>C
2 papers
NM_000539.3
p.N200del1
c.598_600delAAC
1 paper
NM_000539.3
p.E197A
c.590A>C
1 paper
NM_000539.3
p.E197_N199delFs
c.591_597del7
2 papers
NM_000539.3
p.N200K
c.600C>A
2 papers
NM_000539.3
p.N200K
c.600C>G
1 paper
NM_000539.3
p.N200N
c.600C>T
1 paper
NM_000539.3
p.E201delFs
c.601delG
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