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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR2H2

Variant:p.G150A

OR2H2

17 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 2 subfamily H member 2

HGNC Alias Symbol

hs6M1-12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:29588393 G>C

NM_007160.4

p.G150A

c.449G>C

7tm_4

Exome: 0.2% (AC=2358, hom=5)Genome: 0.1% (AC=157, hom=0)45 overlapping SVs

Surrounding Variants

2 papers

chr6:29588459 T>G

NM_007160.4

p.V172G

c.515T>G

7tm_4

Exome: 0.1% (AC=1193, hom=0)Genome: 0.0% (AC=0, hom=0)45 overlapping SVs

1 paper

chr6:29588323 C>T

NM_007160.4

p.P127S

c.379C>T

7tm_4

Exome: 0.2% (AC=2809, hom=23)Genome: 0.1% (AC=182, hom=2)45 overlapping SVs

1 paper

chr6:29588523 T>A

NM_007160.4

p.N193K

c.579T>A

7tm_4

exact variant not in gnomAD45 overlapping SVs

1 paper

chr6:29588523 T>G

NM_007160.4

p.N193K

c.579T>G

7tm_4

Exome: 0.0% (AC=351, hom=0)Genome: 0.0% (AC=13, hom=0)45 overlapping SVs

1 paper

chr6:29588602 A>G

NM_007160.4

p.T220A

c.658A>G

7tm_4

Exome: 0.4% (AC=4124, hom=11)Genome: 0.3% (AC=518, hom=4)45 overlapping SVs

4 papers

chr6:29588087 C>T

NM_007160.4

p.A48V

c.143C>T

7tm_4

Exome: 29.0% (AC=231667, hom=35952)Genome: 26.7% (AC=40628, hom=5631)45 overlapping SVs

1 paper

chr6:29588033 T>C

NM_007160.4

p.L30P

c.89T>C

7tm_4

Exome: 0.0% (AC=0, hom=0)Genome: n/a46 overlapping SVs

1 paper

chr6:29588032 C>T

NM_007160.4

p.L30F

c.88C>T

7tm_4

Exome: 69.3% (AC=592236, hom=207651)Genome: 72.0% (AC=109421, hom=40381)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."