Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E113Q

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
47 papers
NM_000539.3
p.E113Q
c.337G>C
Surrounding Variants
8 papers
NM_000539.3
p.E113K
c.337G>A
1 paper
NM_000539.3
p.E113insFs
c.339dupG
6 papers
NM_000539.3
p.E113A
c.338A>C
1 paper
NM_000539.3
p.L112L
c.336G>A
2 papers
NM_000539.3
p.L112F
c.336G>C
1 paper
NM_000539.3
p.L112F
c.336G>T
1 paper
NM_000539.3
p.E113delFs
c.337_338delGA
5 papers
NM_000539.3
p.E113D
c.339G>C
4 papers
NM_000539.3
p.E113D
c.339G>T
1 paper
NM_000539.3
p.L112*
c.335T>A
2 papers
NM_000539.3
p.L112S
c.335T>C
1 paper
NM_000539.3
p.G114S
c.340G>A
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