Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S334F

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.S334F
c.1001C>T
Surrounding Variants
1 paper
NM_000539.3
p.S334P
c.1000T>C
1 paper
NM_000539.3
p.S334S
c.1002T>C
3 papers
NM_000539.3
p.S334A
c.1000T>G
2 papers
NM_000539.3
p.S334fs
c.1000_1001fs
1 paper
NM_000539.3
p.S334fs
c.1000_1001fs
5 papers
NM_000539.3
p.A335delFs
c.1003delG
1 paper
NM_000539.3
p.S334_V337Fs
c.1002_1010delinsCFs
1 paper
NM_000539.3
p.A335T
c.1003G>A
2 papers
NM_000539.3
p.A335fs
c.1003_1004fs
7 papers
NM_000539.3
p.A333V
c.998C>T
2 papers
NM_000539.3
p.A335V
c.1004C>T
2 papers
NM_000539.3
p.A335delFs
c.1005delT
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