Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A272_F283del12

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.A272_F283del12
c.814_848del36
Surrounding Variants
1 paper
NM_000539.3
p.A272T
c.814G>A
1 paper
NM_000539.3
p.A272E
c.815C>A
3 papers
NM_000539.3
p.V271M
c.811G>A
16 papers
NM_000539.3
p.S270R
c.810C>A
16 papers
NM_000539.3
p.S270R
c.810C>G
1 paper
NM_000539.3
p.S270S
c.810C>T
2 papers
NM_000539.3
p.S270I
c.809G>T
1 paper
NM_000539.3
p.F273L
c.817T>C
1 paper
NM_000539.3
p.F273_F276delFs
c.819_826del8
16 papers
NM_000539.3
p.S270R
c.808A>C
1 paper
NM_000539.3
p.S270G
c.808A>G
1 paper
NM_000539.3
p.F273L
c.819C>A
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