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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR2A42

Variant:p.S168C

OR2A42

9 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 ...

Gene Aliases

HGNC Name

olfactory receptor family 2 subfamily A member 42

HGNC Previous Name

olfactory receptor, family 2, subfamily A, member 42

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr7:144232341 G>C

NM_001001802.3

p.S168C

c.503C>G

7tm_4

Exome: 13.3% (AC=41149, hom=6416)Genome: 3.0% (AC=603, hom=34)26 overlapping SVs

Surrounding Variants

2 papers

chr7:144232374 G>A

NM_001001802.3

p.A157V

c.470C>T

7tm_4

Exome: 14.5% (AC=51011, hom=8152)Genome: 1.6% (AC=341, hom=0)26 overlapping SVs

1 paper

chr7:144232510 G>A

NM_001001802.3

p.L112F

c.334C>T

7tm_4

exact variant not in gnomAD26 overlapping SVs

1 paper

chr7:144232531 TCAAA>T

NM_001001802.3

p.C103_L104delFs

c.307_310del4

7tm_4

Exome: 0.0% (AC=25, hom=6)Genome: 0.0% (AC=3, hom=1)26 overlapping SVs

1 paper

chr7:144232624 G>A

NM_001001802.3

p.R74C

c.220C>T

7tm_4

Exome: 17.4% (AC=69414, hom=20570)Genome: 21.3% (AC=12402, hom=202)26 overlapping SVs

1 paper

chr7:144232627 T>C

NM_001001802.3

p.T73A

c.217A>G

7tm_4

Exome: 20.0% (AC=79449, hom=22810)Genome: 24.1% (AC=13653, hom=267)26 overlapping SVs

1 paper

chr7:144232680 T>G

NM_001001802.3

p.H55P

c.164A>C

7tm_4

Exome: 0.1% (AC=559, hom=0)Genome: 0.0% (AC=8, hom=0)26 overlapping SVs

1 paper

chr7:144232777 G>A

NM_001001802.3

p.Q23*

c.67C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a26 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."