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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHO

Variant:p.T17M

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

194 papers

chr3:129528783 C>T

NM_000539.3

p.T17M

c.50C>T

Rhodopsin_N

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

Surrounding Variants

2 papers

chr3:129528783 C>A

NM_000539.3

p.T17K

c.50C>A

Rhodopsin_N

exact variant not in gnomAD68 overlapping SVs

4 papers

chr3:129528783 C>G

NM_000539.3

p.T17R

c.50C>G

Rhodopsin_N

exact variant not in gnomAD68 overlapping SVs

2 papers

chr3:129528782 A>G

NM_000539.3

p.T17A

c.49A>G

Rhodopsin_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

2 papers

chr3:129528782 A>T

NM_000539.3

p.T17S

c.49A>T

Rhodopsin_N

exact variant not in gnomAD68 overlapping SVs

30 papers

chr3:129528784 G>A

NM_000539.3

p.T17T

c.51G>A

Rhodopsin_N

Exome: 0.0% (AC=9, hom=0)Genome: n/a68 overlapping SVs

1 paper

chr3:129528784 G>C

NM_000539.3

p.T17T

c.51G>C

Rhodopsin_N

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)68 overlapping SVs

2 papers

chr3:129528781 G>A

NM_000539.3

p.A16A

c.48G>A

Rhodopsin_N

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

1 paper

chr3:129528780 C>A

NM_000539.3

p.A16E

c.47C>A

Rhodopsin_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

1 paper

chr3:129528780 C>G

NM_000539.3

p.A16G

c.47C>G

Rhodopsin_N

exact variant not in gnomAD68 overlapping SVs

3 papers

chr3:129528780 C>T

NM_000539.3

p.A16V

c.47C>T

Rhodopsin_N

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=9, hom=0)68 overlapping SVs

11 papers

chr3:129528786 G>A

NM_000539.3

p.G18D

c.53G>A

Rhodopsin_N

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=4, hom=0)68 overlapping SVs

2 papers

chr3:129528786 G>C

NM_000539.3

p.G18A

c.53G>C

Rhodopsin_N

Exome: 0.0% (AC=4, hom=0)Genome: n/a68 overlapping SVs

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