Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C140_K141del1

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.C140_K141del1
c.419_421delGTA
Surrounding Variants
21 papers
NM_000539.3
p.C140S
c.418T>A
1 paper
NM_000539.3
p.C140R
c.418T>C
1 paper
NM_000539.3
p.C140Y
c.419G>A
21 papers
NM_000539.3
p.C140S
c.419G>C
1 paper
NM_000539.3
p.K141T
c.422A>C
2 papers
NM_000539.3
p.K141R
c.422A>G
1 paper
NM_000539.3
p.K141M
c.422A>T
1 paper
NM_000539.3
p.V138V
c.414G>C
1 paper
NM_000539.3
p.V138A
c.413T>C
2 papers
NM_000539.3
p.P142A
c.424C>G
3 papers
NM_000539.3
p.P142S
c.424C>T
1 paper
NM_000539.3
p.V137V
c.411G>A
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