Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E247A

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
3 papers
NM_000539.3
p.E247A
c.740A>C
Surrounding Variants
3 papers
NM_000539.3
p.E247K
c.739G>A
5 papers
NM_000539.3
p.E247Q
c.739G>C
1 paper
NM_000539.3
p.K248delFs
c.743delA
2 papers
NM_000539.3
p.K248R
c.743A>G
1 paper
NM_000539.3
p.A246V
c.737C>T
2 papers
NM_000539.3
p.K248K
c.744G>A
1 paper
NM_000539.3
p.K248N
c.744G>C
1 paper
NM_000539.3
p.K248N
c.744G>T
1 paper
NM_000539.3
p.E249K
c.745G>A
2 papers
NM_000539.3
p.E249Q
c.745G>C
28 papers
NM_000539.3
p.E249*
c.745G>T
1 paper
NM_000539.3
p.E249A
c.746A>C
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