Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q36H

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.Q36H
c.108G>C
Surrounding Variants
1 paper
NM_000539.3
p.Q36H
c.108G>T
1 paper
NM_000539.3
p.F37L
c.109T>C
2 papers
NM_000539.3
p.Q36K
c.106C>A
4 papers
NM_000539.3
p.Q36*
c.106C>T
1 paper
NM_000539.3
p.F37S
c.110T>C
1 paper
NM_000539.3
p.F37L
c.111C>A
1 paper
NM_000539.3
p.F37L
c.111C>G
1 paper
NM_000539.3
p.S38T
c.112T>A
1 paper
NM_000539.3
p.S38P
c.112T>C
1 paper
NM_000539.3
p.S38A
c.112T>G
1 paper
NM_000539.3
p.S38Y
c.113C>A
3 papers
NM_000539.3
p.W35R
c.103T>A
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