Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F85L

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.F85L
c.253T>C
Surrounding Variants
1 paper
NM_000539.3
p.L84L
c.252C>A
7 papers
NM_000539.3
p.L84H
c.251T>A
6 papers
NM_000539.3
p.L84P
c.251T>C
1 paper
NM_000539.3
p.M86insFs
c.257dupT
1 paper
NM_000539.3
p.M86insFs
c.257_258dupTG
4 papers
NM_000539.3
p.M86L
c.256A>C
2 papers
NM_000539.3
p.M86V
c.256A>G
3 papers
NM_000539.3
p.M86L
c.256A>T
1 paper
NM_000539.3
p.L84V
c.250C>G
3 papers
NM_000539.3
p.L84F
c.250C>T
1 paper
NM_000539.3
p.D83D
c.249C>T
1 paper
NM_000539.3
p.L84insFs
c.250dupC
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