Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A260delFs

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.A260delFs
c.779_780delCT
Surrounding Variants
3 papers
NM_000539.3
p.A260T
c.778G>A
1 paper
NM_000539.3
p.A260fs
c.778_779fs
2 papers
NM_000539.3
p.A260V
c.779C>T
1 paper
NM_000539.3
p.I259I
c.777C>T
2 papers
NM_000539.3
p.A260A
c.780T>A
1 paper
NM_000539.3
p.I259T
c.776T>C
3 papers
NM_000539.3
p.F261L
c.781T>C
7 papers
NM_000539.3
p.F261V
c.781T>G
2 papers
NM_000539.3
p.A260_I263del0
c.778_789del12
8 papers
NM_000539.3
p.F261Y
c.782T>A
4 papers
NM_000539.3
p.F261S
c.782T>C
1 paper
NM_000539.3
p.F261C
c.782T>G
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