Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N315delFs

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
2 papers
NM_000539.3
p.N315delFs
c.944delA
Surrounding Variants
1 paper
NM_000539.3
p.N315fs
c.943_944fs
3 papers
NM_000539.3
p.R314Q
c.941G>A
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
4 papers
NM_000539.3
p.N315K
c.945C>A
4 papers
NM_000539.3
p.N315K
c.945C>G
3 papers
NM_000539.3
p.C316delFs
c.946delT
7 papers
NM_000539.3
p.C316S
c.946T>A
4 papers
NM_000539.3
p.F313C
c.938T>G
1 paper
NM_000539.3
p.C316fs
c.946_947fs
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