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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR10H2

Variant:p.L40Q

OR10H2

33 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 31–309UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 10 subfamily H member 2

HGNC Previous Name

olfactory receptor, family 10, subfamily H, member 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr19:15728162 T>A

NM_013939.2

p.L40Q

c.119T>A

7tm_4

Exome: 28.1% (AC=410825, hom=60003)Genome: 31.6% (AC=48057, hom=8162)15 overlapping SVs

Surrounding Variants

1 paper

chr19:15728157 G>A

NM_013939.2

p.T38T

c.114G>A

7tm_4

Exome: 40.5% (AC=584139, hom=88624)Genome: 36.4% (AC=54058, hom=8824)15 overlapping SVs

1 paper

chr19:15728183 C>A

NM_013939.2

p.A47D

c.140C>A

7tm_4

exact variant not in gnomAD15 overlapping SVs

2 papers

chr19:15728115 A>G

NM_013939.2

p.Q24Q

c.72A>G

Exome: 0.1% (AC=989, hom=7)Genome: 0.6% (AC=821, hom=7)15 overlapping SVs

1 paper

chr19:15728113 C>T

NM_013939.2

p.Q24*

c.70C>T

Exome: n/aGenome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr19:15728100 C>T

NM_013939.2

p.A19A

c.57C>T

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=8, hom=0)15 overlapping SVs

1 paper

chr19:15728237 T>C

NM_013939.2

p.V65A

c.194T>C

7tm_4

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=2, hom=0)15 overlapping SVs

1 paper

chr19:15728257 C>T

NM_013939.2

p.L72F

c.214C>T

7tm_4

exact variant not in gnomAD15 overlapping SVs

1 paper

chr19:15728059 C>T

NM_013939.2

p.H6Y

c.16C>T

Exome: 0.3% (AC=4074, hom=6)Genome: 0.2% (AC=256, hom=0)15 overlapping SVs

1 paper

chr19:15728266 G>A

NM_013939.2

p.V75M

c.223G>A

7tm_4

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=0, hom=0)15 overlapping SVs

1 paper

chr19:15728281 C>T

NM_013939.2

p.R80C

c.238C>T

7tm_4

Exome: 0.0% (AC=3, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr19:15728292 C>T

NM_013939.2

p.A83A

c.249C>T

7tm_4

Exome: 0.0% (AC=330, hom=0)Genome: 0.0% (AC=16, hom=0)15 overlapping SVs

1 paper

chr19:15728358 C>T

NM_013939.2

p.F105F

c.315C>T

7tm_4

Exome: 17.3% (AC=251990, hom=2053)Genome: 15.7% (AC=23777, hom=585)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."