Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q312_F313Splc

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.Q312_F313Splc
c.936+44G>A
Surrounding Variants
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+44G>T
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+45C>T
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+46G>A
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+34C>T
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+30G>A
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+27A>G
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+26C>A
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+26C>T
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+64G>A
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+17G>T
2 papers
NM_000539.3
p.Q312_F313Splc
c.936+12G>A
1 paper
NM_000539.3
p.Q312_F313Splc
c.936+11C>A
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