Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M207K

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
13 papers
NM_000539.3
p.M207K
c.620T>A
Surrounding Variants
28 papers
NM_000539.3
p.M207R
c.620T>G
3 papers
NM_000539.3
p.M207L
c.619A>C
1 paper
NM_000539.3
p.M207V
c.619A>G
3 papers
NM_000539.3
p.M207L
c.619A>T
1 paper
NM_000539.3
p.F208del1
c.622_623delTTC
2 papers
NM_000539.3
p.F208L
c.622T>C
1 paper
NM_000539.3
p.Y206S
c.617A>C
1 paper
NM_000539.3
p.Y206C
c.617A>G
2 papers
NM_000539.3
p.Y206F
c.617A>T
2 papers
NM_000539.3
p.F208C
c.623T>G
1 paper
NM_000539.3
p.F208L
c.624C>A
1 paper
NM_000539.3
p.F208L
c.624C>G
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