Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S127C

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.S127C
c.380C>G
Surrounding Variants
1 paper
NM_000539.3
p.S127Y
c.380C>A
11 papers
NM_000539.3
p.S127F
c.380C>T
1 paper
NM_000539.3
p.S127_L128delFs
c.381_382delCT
1 paper
NM_000539.3
p.L128_V129insFs
c.382_385dup4
1 paper
NM_000539.3
p.S127S
c.381C>G
1 paper
NM_000539.3
p.S127S
c.381C>T
1 paper
NM_000539.3
p.S127T
c.379T>A
1 paper
NM_000539.3
p.S127A
c.379T>G
1 paper
NM_000539.3
p.S127delFs
c.381delC
5 papers
NM_000539.3
p.W126*
c.378G>A
1 paper
NM_000539.3
p.W126C
c.378G>C
1 paper
NM_000539.3
p.W126C
c.378G>T
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