Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.K296E

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
97 papers
NM_000539.3
p.K296E
c.886A>G
Surrounding Variants
4 papers
NM_000539.3
p.K296Q
c.886A>C
11 papers
NM_000539.3
p.K296R
c.887A>G
25 papers
NM_000539.3
p.K296M
c.887A>T
1 paper
NM_000539.3
p.K296_S297del1
c.887_889delAGA
30 papers
NM_000539.3
p.A295V
c.884C>T
9 papers
NM_000539.3
p.K296N
c.888G>C
8 papers
NM_000539.3
p.K296N
c.888G>T
20 papers
NM_000539.3
p.S297R
c.889A>C
1 paper
NM_000539.3
p.A295T
c.883G>A
5 papers
NM_000539.3
p.A295S
c.883G>T
1 paper
NM_000539.3
p.A295delFs
c.885delC
1 paper
NM_000539.3
p.S297N
c.890G>A
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