Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C316delFs

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
3 papers
NM_000539.3
p.C316delFs
c.946delT
Surrounding Variants
4 papers
NM_000539.3
p.N315K
c.945C>A
4 papers
NM_000539.3
p.N315K
c.945C>G
7 papers
NM_000539.3
p.C316S
c.946T>A
1 paper
NM_000539.3
p.C316fs
c.946_947fs
1 paper
NM_000539.3
p.C316fs
c.946_947fs
1 paper
NM_000539.3
p.N315fs
c.943_944fs
1 paper
NM_000539.3
p.C316Y
c.947G>A
7 papers
NM_000539.3
p.C316S
c.947G>C
2 papers
NM_000539.3
p.C316*
c.948C>A
1 paper
NM_000539.3
p.C316W
c.948C>G
2 papers
NM_000539.3
p.C316C
c.948C>T
2 papers
NM_000539.3
p.N315delFs
c.944delA
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