Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F13S

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
3 papers
NM_000539.3
p.F13S
c.38T>C
Surrounding Variants
1 paper
NM_000539.3
p.F13L
c.39C>A
1 paper
NM_000539.3
p.F13I
c.37T>A
3 papers
NM_000539.3
p.F13fs
c.37_38fs
6 papers
NM_000539.3
p.F13fs
c.37_38fs
1 paper
NM_000539.3
p.P12P
c.36C>T
1 paper
NM_000539.3
p.P12H
c.35C>A
9 papers
NM_000539.3
p.P12R
c.35C>G
1 paper
NM_000539.3
p.P12L
c.35C>T
1 paper
NM_000539.3
p.P12T
c.34C>A
1 paper
NM_000539.3
p.S14S
c.42C>A
1 paper
NM_000539.3
p.P12A
c.34C>G
1 paper
NM_000539.3
p.P12S
c.34C>T
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