Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y10delFs

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.Y10delFs
c.28delT
Surrounding Variants
2 papers
NM_000539.3
p.F9L
c.27C>A
2 papers
NM_000539.3
p.F9L
c.27C>G
1 paper
NM_000539.3
p.F9F
c.27C>T
1 paper
NM_000539.3
p.Y10N
c.28T>A
1 paper
NM_000539.3
p.F9S
c.26T>C
1 paper
NM_000539.3
p.Y10F
c.29A>T
2 papers
NM_000539.3
p.F9L
c.25T>C
1 paper
NM_000539.3
p.F9V
c.25T>G
1 paper
NM_000539.3
p.N8K
c.24C>A
1 paper
NM_000539.3
p.Y10*
c.30C>A
1 paper
NM_000539.3
p.Y10*
c.30C>G
1 paper
NM_000539.3
p.Y10Y
c.30C>T
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