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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR10C1

OR10C1

46 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 30–307UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 10 subfamily C member 1

HGNC Previous Symbol

OR10C2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 49 variants

4 papers

chr6:29440178 C>T

NM_013941.4

p.Q55*

c.163C>T

7tm_4

Exome: 0.7% (AC=10193, hom=159)Genome: 2.5% (AC=3861, hom=115)46 overlapping SVs

3 papers

chr6:29440184 C>T

NM_013941.4

p.P57S

c.169C>T

7tm_4

Exome: 0.1% (AC=2162, hom=12)Genome: 0.2% (AC=326, hom=1)46 overlapping SVs

3 papers

chr6:29440280 C>A

NM_013941.4

p.R89S

c.265C>A

7tm_4

Exome: 1.1% (AC=16573, hom=371)Genome: 3.9% (AC=5946, hom=276)46 overlapping SVs

3 papers

chr6:29440536 C>A

NM_013941.4

p.P174Q

c.521C>A

7tm_4

Exome: 15.1% (AC=221206, hom=17765)Genome: 12.7% (AC=19398, hom=1428)47 overlapping SVs

3 papers

chr6:29440751 A>G

NM_013941.4

p.M246V

c.736A>G

7tm_4

Exome: 55.9% (AC=816867, hom=230049)Genome: 57.0% (AC=86685, hom=24919)46 overlapping SVs

2 papers

chr6:29440427 C>T

NM_013941.4

p.R138W

c.412C>T

7tm_4

Exome: 0.7% (AC=9837, hom=141)Genome: 2.4% (AC=3644, hom=99)46 overlapping SVs

2 papers

chr6:29440707 C>T

NM_013941.4

p.A231V

c.692C>T

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a46 overlapping SVs

2 papers

chr6:29440815 C>T

NM_013941.4

p.P267L

c.800C>T

7tm_4

Exome: 0.0% (AC=366, hom=0)Genome: 0.0% (AC=38, hom=0)46 overlapping SVs

2 papers

chr6:29440944 T>G

NM_013941.4

p.M310R

c.929T>G

Exome: 0.6% (AC=9314, hom=120)Genome: 2.1% (AC=3156, hom=65)45 overlapping SVs

1 paper

chr6:29440023 C>A

NM_013941.4

p.A3E

c.8C>A

Exome: 0.7% (AC=9829, hom=192)Genome: 0.9% (AC=1410, hom=44)46 overlapping SVs

1 paper

chr6:29440078 C>A

NM_013941.4

p.D21E

c.63C>A

exact variant not in gnomAD46 overlapping SVs

1 paper

chr6:29440093 C>A

NM_013941.4

p.L26L

c.78C>A

exact variant not in gnomAD46 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."