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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR3A2

Variant:p.T243M

OR3A2

7 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 34–311UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 3 subfamily A member 2

HGNC Alias Symbols

OLFRA04; OR228; OR17-228

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:3278190 G>A

NM_002551.5

p.T243M

c.728C>T

7tm_4

Exome: 0.0% (AC=42, hom=1)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr17:3278211 C>T

NM_002551.5

p.G236D

c.707G>A

7tm_4

exact variant not in gnomAD9 overlapping SVs

1 paper

chr17:3278485 T>A

NM_002551.5

p.R145W

c.433A>T

7tm_4

exact variant not in gnomAD9 overlapping SVs

1 paper

chr17:3278793 G>A

NM_002551.5

p.T42I

c.125C>T

7tm_4

Exome: 0.4% (AC=6157, hom=28)Genome: 0.3% (AC=385, hom=3)9 overlapping SVs

1 paper

chr17:3278880 G>T

NM_002551.5

p.A13D

c.38C>A

exact variant not in gnomAD9 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."