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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR2A1

OR2A1

11 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 30–307UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 2 subfamily A member 1

HGNC Previous Name

olfactory receptor, family 2, subfamily A, member 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr7:144318191 C>T

NM_001005287.2

p.Q23*

c.67C>T

exact variant not in gnomAD25 overlapping SVs

1 paper

chr7:144318289 C>T

NM_001005287.2

p.H55H

c.165C>T

7tm_4

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=4, hom=0)25 overlapping SVs

1 paper

chr7:144318341 A>G

NM_001005287.2

p.T73A

c.217A>G

7tm_4

Exome: 81.6% (AC=1012324, hom=392287)Genome: 84.5% (AC=126926, hom=51945)25 overlapping SVs

1 paper

chr7:144318344 C>T

NM_001005287.2

p.R74C

c.220C>T

7tm_4

Exome: 80.9% (AC=1066240, hom=408113)Genome: 81.1% (AC=121505, hom=46743)25 overlapping SVs

1 paper

chr7:144318408 G>A

NM_001005287.2

p.G95D

c.284G>A

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr7:144318458 C>T

NM_001005287.2

p.L112F

c.334C>T

7tm_4

exact variant not in gnomAD26 overlapping SVs

1 paper

chr7:144318485 C>T

NM_001005287.2

p.R121C

c.361C>T

7tm_4

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)26 overlapping SVs

1 paper

chr7:144318627 C>G

NM_001005287.2

p.S168C

c.503C>G

7tm_4

Exome: 80.1% (AC=474240, hom=178542)Genome: 81.5% (AC=95190, hom=36875)26 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."