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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR2C1

OR2C1

40 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 31–307UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 2 subfamily C member 1

HGNC Previous Symbol

OR2C2P

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

5 papers

chr16:3356757 T>TN

NM_012368.3

p.F273fs

c.817_818fs

7tm_4

exact variant not in gnomAD3 overlapping SVs

4 papers

chr16:3356478 G>A

NM_012368.3

p.E180K

c.538G>A

7tm_4

Exome: 0.5% (AC=6590, hom=13)Genome: 0.3% (AC=513, hom=2)3 overlapping SVs

3 papers

chr16:3355986 G>A

NM_012368.3

p.G16S

c.46G>A

Exome: 27.8% (AC=405952, hom=57675)Genome: 28.5% (AC=43240, hom=6375)3 overlapping SVs

2 papers

chr16:3356112 C>T

NM_012368.3

p.P58S

c.172C>T

7tm_4

Exome: 1.1% (AC=15560, hom=1441)Genome: 1.6% (AC=2493, hom=147)3 overlapping SVs

2 papers

chr16:3356340 G>A

NM_012368.3

p.A134T

c.400G>A

7tm_4

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=11, hom=0)3 overlapping SVs

2 papers

chr16:3356387 C>G

NM_012368.3

p.C149W

c.447C>G

7tm_4

Exome: 100.0% (AC=1461219, hom=730498)Genome: 99.8% (AC=152070, hom=75894)3 overlapping SVs

2 papers

chr16:3356454 C>T

NM_012368.3

p.R172W

c.514C>T

7tm_4

Exome: 0.0% (AC=480, hom=2)Genome: 0.0% (AC=49, hom=0)3 overlapping SVs

2 papers

chr16:3356643 C>T

NM_012368.3

p.R235*

c.703C>T

7tm_4

Exome: 0.0% (AC=137, hom=1)Genome: 0.0% (AC=15, hom=0)3 overlapping SVs

2 papers

chr16:3356756 GT>G

NM_012368.3

p.F273delFs

c.817delT

7tm_4

Exome: 5.5% (AC=80629, hom=2476)Genome: 4.4% (AC=6670, hom=196)3 overlapping SVs

2 papers

chr16:3356838 G>A

NM_012368.3

p.A300T

c.898G>A

7tm_4

Exome: 1.3% (AC=18720, hom=167)Genome: 0.9% (AC=1377, hom=14)3 overlapping SVs

1 paper

chr16:3355946 C>A

NM_012368.3

p.D2E

c.6C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr16:3355946 C>G

NM_012368.3

p.D2E

c.6C>G

Exome: 0.0% (AC=492, hom=2)Genome: 0.0% (AC=49, hom=0)3 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."