Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.H100L

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
6 papers
NM_000539.3
p.H100L
c.299A>T
Surrounding Variants
4 papers
NM_000539.3
p.H100P
c.299A>C
4 papers
NM_000539.3
p.H100R
c.299A>G
3 papers
NM_000539.3
p.H100N
c.298C>A
1 paper
NM_000539.3
p.H100Q
c.300T>A
3 papers
NM_000539.3
p.G101R
c.301G>A
1 paper
NM_000539.3
p.G101R
c.301G>C
10 papers
NM_000539.3
p.G101E
c.302G>A
1 paper
NM_000539.3
p.G101A
c.302G>C
8 papers
NM_000539.3
p.G101V
c.302G>T
3 papers
NM_000539.3
p.L99P
c.296T>C
1 paper
NM_000539.3
p.G101G
c.303A>T
1 paper
NM_000539.3
p.L99V
c.295C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."