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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR10H3

OR10H3

30 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 32–310UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 10 subfamily H member 3

HGNC Previous Name

olfactory receptor, family 10, subfamily H, member 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 34 variants

4 papers

chr19:15742270 G>A

NM_013938.2

p.S293N

c.878G>A

7tm_4

Exome: 18.8% (AC=275313, hom=26156)Genome: 17.6% (AC=26713, hom=2415)16 overlapping SVs

3 papers

chr19:15742062 G>A

NM_013938.2

p.V224M

c.670G>A

7tm_4

Exome: 26.0% (AC=380009, hom=50882)Genome: 21.3% (AC=32311, hom=3907)16 overlapping SVs

2 papers

chr19:15741413 A>C

NM_013938.2

p.R7S

c.21A>C

Exome: 73.3% (AC=1069648, hom=396950)Genome: 73.8% (AC=112217, hom=42057)15 overlapping SVs

2 papers

chr19:15741413 A>T

NM_013938.2

p.R7S

c.21A>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr19:15741432 C>A

NM_013938.2

p.L14I

c.40C>A

Exome: 8.1% (AC=117656, hom=12459)Genome: 8.2% (AC=12498, hom=1562)15 overlapping SVs

1 paper

chr19:15741471 G>T

NM_013938.2

p.V27F

c.79G>T

exact variant not in gnomAD15 overlapping SVs

1 paper

chr19:15741553 G>A

NM_013938.2

p.R54H

c.161G>A

7tm_4

Exome: 28.1% (AC=411073, hom=60308)Genome: 31.7% (AC=48171, hom=8246)15 overlapping SVs

1 paper

chr19:15741589 C>T

NM_013938.2

p.A66V

c.197C>T

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr19:15741610 T>C

NM_013938.2

p.L73P

c.218T>C

7tm_4

exact variant not in gnomAD15 overlapping SVs

1 paper

chr19:15741627 A>T

NM_013938.2

p.T79S

c.235A>T

7tm_4

exact variant not in gnomAD15 overlapping SVs

1 paper

chr19:15741628 C>G

NM_013938.2

p.T79S

c.236C>G

7tm_4

exact variant not in gnomAD15 overlapping SVs

1 paper

chr19:15741685 G>T

NM_013938.2

p.C98F

c.293G>T

7tm_4

Exome: 1.2% (AC=17030, hom=0)Genome: 0.0% (AC=6, hom=0)15 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."