Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F212C

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.F212C
c.635T>G
Surrounding Variants
1 paper
NM_000539.3
p.H211Q
c.633C>G
1 paper
NM_000539.3
p.H211H
c.633C>T
27 papers
NM_000539.3
p.H211P
c.632A>C
26 papers
NM_000539.3
p.H211R
c.632A>G
6 papers
NM_000539.3
p.H211L
c.632A>T
1 paper
NM_000539.3
p.T213I
c.638C>T
1 paper
NM_000539.3
p.H211N
c.631C>A
2 papers
NM_000539.3
p.H211D
c.631C>G
2 papers
NM_000539.3
p.H211Y
c.631C>T
1 paper
NM_000539.3
p.I214fs
c.640_641fs
2 papers
NM_000539.3
p.I214fs
c.640_641fs
2 papers
NM_000539.3
p.V210V
c.630C>T
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