Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.V254A

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.V254A
c.761T>C
Surrounding Variants
1 paper
NM_000539.3
p.V254L
c.760G>C
1 paper
NM_000539.3
p.V254F
c.760G>T
14 papers
NM_000539.3
p.I255del1
c.763_764delATC
1 paper
NM_000539.3
p.M257_I259ins1
c.769_777dup9
15 papers
NM_000539.3
p.M253I
c.759G>A
15 papers
NM_000539.3
p.M253I
c.759G>C
2 papers
NM_000539.3
p.V254ins0
c.760_762dupGTC
16 papers
NM_000539.3
p.M253I
c.759G>T
1 paper
NM_000539.3
p.V254delFs
c.760_761delGT
3 papers
NM_000539.3
p.I255N
c.764T>A
2 papers
NM_000539.3
p.M253T
c.758T>C
1 paper
NM_000539.3
p.I255T
c.764T>C
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