Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T17A

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
2 papers
NM_000539.3
p.T17A
c.49A>G
Surrounding Variants
2 papers
NM_000539.3
p.T17S
c.49A>T
2 papers
NM_000539.3
p.T17K
c.50C>A
4 papers
NM_000539.3
p.T17R
c.50C>G
194 papers
NM_000539.3
p.T17M
c.50C>T
2 papers
NM_000539.3
p.A16A
c.48G>A
1 paper
NM_000539.3
p.A16E
c.47C>A
1 paper
NM_000539.3
p.A16G
c.47C>G
3 papers
NM_000539.3
p.A16V
c.47C>T
30 papers
NM_000539.3
p.T17T
c.51G>A
1 paper
NM_000539.3
p.T17T
c.51G>C
1 paper
NM_000539.3
p.A16T
c.46G>A
1 paper
NM_000539.3
p.A16fs
c.46_47fs
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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."