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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR6B3

OR6B3

21 papers

RefSeq Summary

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family ...

Pfam Domains

7tm_4aa 31–307UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 6 subfamily B member 3

HGNC Previous Symbol

OR6B3P

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 18 variants

5 papers

chr2:240045930 G>A

NM_173351.2

p.T48I

c.143C>T

7tm_4

Exome: 44.7% (AC=478184, hom=136438)Genome: 50.6% (AC=74480, hom=18932)7 overlapping SVs

2 papers

chr2:240045423 G>A

NM_173351.2

p.S217L

c.650C>T

7tm_4

exact variant not in gnomAD7 overlapping SVs

1 paper

chr2:240045935 G>C

NM_173351.2

p.I46M

c.138C>G

7tm_4

exact variant not in gnomAD7 overlapping SVs

1 paper

chr2:240045929 G>A

NM_173351.2

p.T48T

c.144C>T

7tm_4

Exome: 0.0% (AC=182, hom=1)Genome: 0.0% (AC=20, hom=0)7 overlapping SVs

1 paper

chr2:240045928 C>T

NM_173351.2

p.V49I

c.145G>A

7tm_4

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr2:240045853 C>T

NM_173351.2

p.V74M

c.220G>A

7tm_4

Exome: 0.0% (AC=195, hom=0)Genome: 0.0% (AC=13, hom=0)7 overlapping SVs

1 paper

chr2:240045709 G>A

NM_173351.2

p.R122C

c.364C>T

7tm_4

Exome: 0.0% (AC=162, hom=0)Genome: 0.0% (AC=30, hom=0)7 overlapping SVs

1 paper

chr2:240045682 G>A

NM_173351.2

p.R131C

c.391C>T

7tm_4

Exome: 57.7% (AC=679294, hom=197331)Genome: 62.2% (AC=91840, hom=28821)7 overlapping SVs

1 paper

chr2:240045559 T>G

NM_173351.2

p.N172H

c.514A>C

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr2:240045556 C>A

NM_173351.2

p.V173F

c.517G>T

7tm_4

exact variant not in gnomAD7 overlapping SVs

1 paper

chr2:240045538 A>G

NM_173351.2

p.C179R

c.535T>C

7tm_4

Exome: 0.0% (AC=173, hom=0)Genome: 0.0% (AC=23, hom=0)7 overlapping SVs

1 paper

chr2:240045528 G>A

NM_173351.2

p.S182F

c.545C>T

7tm_4

Exome: 0.0% (AC=44, hom=1)Genome: 0.0% (AC=8, hom=0)7 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."