Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.S343C

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
5 papers
NM_000539.3
p.S343C
c.1027A>T
Surrounding Variants
1 paper
NM_000539.3
p.S343R
c.1027A>C
9 papers
NM_000539.3
p.S343N
c.1028G>A
1 paper
NM_000539.3
p.S343T
c.1028G>C
1 paper
NM_000539.3
p.T342K
c.1025C>A
1 paper
NM_000539.3
p.S343R
c.1029C>A
1 paper
NM_000539.3
p.S343R
c.1029C>G
18 papers
NM_000539.3
p.T342M
c.1025C>T
1 paper
NM_000539.3
p.S343S
c.1029C>T
1 paper
NM_000539.3
p.T342_Q344insFs
c.1026_1030dup5
1 paper
NM_000539.3
p.T342A
c.1024A>G
1 paper
NM_000539.3
p.Q344E
c.1030C>G
57 papers
NM_000539.3
p.Q344*
c.1030C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."