Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S338fs

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.S338fs
c.1012_1013fs
Surrounding Variants
4 papers
NM_000539.3
p.S338A
c.1012T>G
1 paper
NM_000539.3
p.S338C
c.1013C>G
1 paper
NM_000539.3
p.S338S
c.1014C>A
1 paper
NM_000539.3
p.K339insFs
c.1015_1016insA
2 papers
NM_000539.3
p.S338S
c.1014C>T
2 papers
NM_000539.3
p.V337A
c.1010T>C
2 papers
NM_000539.3
p.K339*
c.1015A>T
2 papers
NM_000539.3
p.V337M
c.1009G>A
1 paper
NM_000539.3
p.V337fs
c.1009_1010fs
1 paper
NM_000539.3
p.V337insFs
c.1010dupT
1 paper
NM_000539.3
p.V337delFs
c.1010delT
2 papers
NM_000539.3
p.K339R
c.1016A>G
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