Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T242S

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.T242S
c.724A>T
Surrounding Variants
2 papers
NM_000539.3
p.T242A
c.724A>G
1 paper
NM_000539.3
p.T242S
c.725C>G
1 paper
NM_000539.3
p.T242_Q244del3
c.724_731del9
1 paper
NM_000539.3
p.T243P
c.727A>C
2 papers
NM_000539.3
p.T243A
c.727A>G
1 paper
NM_000539.3
p.A241T
c.721G>A
1 paper
NM_000539.3
p.A241S
c.721G>T
2 papers
NM_000539.3
p.Q244*
c.730C>T
2 papers
NM_000539.3
p.S240A
c.718T>G
1 paper
NM_000539.3
p.E239A
c.716A>C
2 papers
NM_000539.3
p.Q244Q
c.732G>A
1 paper
NM_000539.3
p.K245E
c.733A>G
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