Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A173_G174del1

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.A173_G174del1
c.518_520delCCG
Surrounding Variants
2 papers
NM_000539.3
p.L172P
c.515T>C
2 papers
NM_000539.3
p.L172F
c.514C>T
1 paper
NM_000539.3
p.L172L
c.516C>T
2 papers
NM_000539.3
p.A173T
c.517G>A
1 paper
NM_000539.3
p.A173P
c.517G>C
18 papers
NM_000539.3
p.P171Q
c.512C>A
3 papers
NM_000539.3
p.A173D
c.518C>A
7 papers
NM_000539.3
p.P171R
c.512C>G
44 papers
NM_000539.3
p.P171L
c.512C>T
1 paper
NM_000539.3
p.A173V
c.518C>T
1 paper
NM_000539.3
p.P171T
c.511C>A
18 papers
NM_000539.3
p.P171S
c.511C>T
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