Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A16T

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.A16T
c.46G>A
Surrounding Variants
1 paper
NM_000539.3
p.A16fs
c.46_47fs
1 paper
NM_000539.3
p.T17del1
c.49_50delACG
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
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
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
2 papers
NM_000539.3
p.A16A
c.48G>A
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