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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR12D2

OR12D2

36 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 29–306UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 12 subfamily D member 2

HGNC Alias Symbol

hs6M1-20

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 39 variants

5 papers

chr6:29397061 C>G

NM_013936.4

p.S121C

c.362C>G

7tm_4

Exome: 26.3% (AC=383956, hom=52834)Genome: 22.2% (AC=33790, hom=4151)46 overlapping SVs

5 papers

chr6:29397174 G>A

NM_013936.4

p.V159I

c.475G>A

7tm_4

Exome: 41.6% (AC=607337, hom=129145)Genome: 35.9% (AC=54438, hom=10555)46 overlapping SVs

4 papers

chr6:29397058 T>G

NM_013936.4

p.L120R

c.359T>G

7tm_4

Exome: 41.6% (AC=607230, hom=129164)Genome: 35.8% (AC=54462, hom=10549)46 overlapping SVs

3 papers

chr6:29396838 G>T

NM_013936.4

p.V47F

c.139G>T

7tm_4

Exome: 41.6% (AC=605985, hom=129134)Genome: 35.9% (AC=54477, hom=10560)47 overlapping SVs

3 papers

chr6:29396866 T>C

NM_013936.4

p.L56P

c.167T>C

7tm_4

Exome: 41.6% (AC=605613, hom=129111)Genome: 35.8% (AC=54468, hom=10557)47 overlapping SVs

3 papers

chr6:29397036 T>C

NM_013936.4

p.F113L

c.337T>C

7tm_4

exact variant not in gnomAD46 overlapping SVs

3 papers

chr6:29397038 C>A

NM_013936.4

p.F113L

c.339C>A

7tm_4

exact variant not in gnomAD46 overlapping SVs

3 papers

chr6:29397038 C>G

NM_013936.4

p.F113L

c.339C>G

7tm_4

Exome: 41.6% (AC=607289, hom=129180)Genome: 35.8% (AC=54494, hom=10567)46 overlapping SVs

2 papers

chr6:29397236 T>G

NM_013936.4

p.I179M

c.537T>G

7tm_4

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=0, hom=0)46 overlapping SVs

2 papers

chr6:29397262 G>A

NM_013936.4

p.G188E

c.563G>A

7tm_4

exact variant not in gnomAD46 overlapping SVs

2 papers

chr6:29397287 A>G

NM_013936.4

p.L196L

c.588A>G

7tm_4

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=3, hom=0)46 overlapping SVs

2 papers

chr6:29397302 G>A

NM_013936.4

p.T201T

c.603G>A

7tm_4

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=3, hom=0)46 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."