Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E232_A233Splc

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.E232_A233Splc
c.696+24C>G
Surrounding Variants
1 paper
NM_000539.3
p.E232_A233Splc
c.696+23C>T
1 paper
NM_000539.3
p.E232_A233Splc
c.696+21G>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+20C>T
1 paper
NM_000539.3
p.E232_A233Splc
c.696+28C>T
1 paper
NM_000539.3
p.E232_A233Splc
c.696+19G>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+29G>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+32T>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+15G>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+14G>T
1 paper
NM_000539.3
p.E232_A233Splc
c.696+13G>A
2 papers
NM_000539.3
p.E232_A233Splc
c.696+12G>A
1 paper
NM_000539.3
p.E232_A233Splc
c.696+12G>C
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