Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F313fs

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.F313fs
c.937_938fs
Surrounding Variants
9 papers
NM_000539.3
p.Q312_F313Splc
c.937-1G>A
3 papers
NM_000539.3
p.Q312_F313Splc
c.937-1G>C
14 papers
NM_000539.3
p.Q312_F313Splc
c.937-1G>T
4 papers
NM_000539.3
p.F313C
c.938T>G
3 papers
NM_000539.3
p.Q312_F313Splc
c.937-2A>C
3 papers
NM_000539.3
p.Q312_F313Splc
c.937-2A>G
4 papers
NM_000539.3
p.Q312_F313Splc
c.937-2A>T
4 papers
NM_000539.3
p.R314_N315insFs
c.942_943insG
1 paper
NM_000539.3
p.R314insFs
c.940_941ins19
4 papers
NM_000539.3
p.R314fs
c.940_941fs
2 papers
NM_000539.3
p.R314W
c.940C>T
1 paper
NM_000539.3
p.Q312_F313Splc
c.937-4C>T
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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."