Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L318del1

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.L318del1
c.952_953delCTC
Surrounding Variants
1 paper
NM_000539.3
p.L318V
c.952C>G
5 papers
NM_000539.3
p.L318_T319del1
c.953_955delTCA
1 paper
NM_000539.3
p.M317K
c.950T>A
1 paper
NM_000539.3
p.M317R
c.950T>G
1 paper
NM_000539.3
p.M317L
c.949A>C
1 paper
NM_000539.3
p.M317L
c.949A>T
1 paper
NM_000539.3
p.L318H
c.953T>A
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
1 paper
NM_000539.3
p.T319delFs
c.955delA
1 paper
NM_000539.3
p.T319A
c.955A>G
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