Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M257L

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
2 papers
NM_000539.3
p.M257L
c.769A>T
Surrounding Variants
2 papers
NM_000539.3
p.M257L
c.769A>C
1 paper
NM_000539.3
p.M257V
c.769A>G
1 paper
NM_000539.3
p.M257K
c.770T>A
1 paper
NM_000539.3
p.M257T
c.770T>C
1 paper
NM_000539.3
p.M257R
c.770T>G
1 paper
NM_000539.3
p.M257I
c.771G>A
1 paper
NM_000539.3
p.M257I
c.771G>C
1 paper
NM_000539.3
p.M257I
c.771G>T
1 paper
NM_000539.3
p.I256N
c.767T>A
1 paper
NM_000539.3
p.I256delFs
c.768delC
1 paper
NM_000539.3
p.I256V
c.766A>G
1 paper
NM_000539.3
p.V258I
c.772G>A
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