Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T340T

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.T340T
c.1020G>C
Surrounding Variants
1 paper
NM_000539.3
p.T340T
c.1020G>A
1 paper
NM_000539.3
p.E341_S343del3
c.1021_1028del9
2 papers
NM_000539.3
p.E341insFs
c.1021dupG
9 papers
NM_000539.3
p.T340M
c.1019C>T
1 paper
NM_000539.3
p.E341_S343delFs
c.1021_1028del8
15 papers
NM_000539.3
p.E341K
c.1021G>A
5 papers
NM_000539.3
p.E341*
c.1021G>T
2 papers
NM_000539.3
p.E341fs
c.1021_1022fs
5 papers
NM_000539.3
p.T340A
c.1018A>G
1 paper
NM_000539.3
p.E341V
c.1022A>T
1 paper
NM_000539.3
p.T340delFs
c.1019delC
1 paper
NM_000539.3
p.T340fs
c.1018_1019fs
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