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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR1Q1

OR1Q1

25 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 31–308UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 1 subfamily Q member 1

HGNC Previous Symbols

OR1Q2; OR1Q3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 22 variants

4 papers

chr9:122615455 A>G

NM_012364.1

p.T240A

c.718A>G

7tm_4

Exome: 7.5% (AC=109596, hom=6242)Genome: 7.4% (AC=11277, hom=713)19 overlapping SVs

2 papers

chr9:122615416 C>T

NM_012364.1

p.R227W

c.679C>T

7tm_4

Exome: 0.0% (AC=31, hom=1)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr9:122614835 T>G

NM_012364.1

p.L33R

c.98T>G

7tm_4

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr9:122614843 G>A

NM_012364.1

p.A36T

c.106G>A

7tm_4

Exome: 0.3% (AC=4426, hom=12)Genome: 0.2% (AC=309, hom=0)19 overlapping SVs

1 paper

chr9:122614850 A>G

NM_012364.1

p.N38S

c.113A>G

7tm_4

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr9:122614897 C>T

NM_012364.1

p.R54C

c.160C>T

7tm_4

Exome: 0.3% (AC=5049, hom=328)Genome: 0.5% (AC=832, hom=31)19 overlapping SVs

1 paper

chr9:122614898 G>A

NM_012364.1

p.R54H

c.161G>A

7tm_4

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr9:122614904 A>C

NM_012364.1

p.H56P

c.167A>C

7tm_4

exact variant not in gnomAD19 overlapping SVs

1 paper

chr9:122615028 T>G

NM_012364.1

p.C97W

c.291T>G

7tm_4

exact variant not in gnomAD19 overlapping SVs

1 paper

chr9:122615168 T>C

NM_012364.1

p.M144T

c.431T>C

7tm_4

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

1 paper

chr9:122615261 C>T

NM_012364.1

p.P175L

c.524C>T

7tm_4

Exome: 0.2% (AC=3378, hom=6)Genome: 0.2% (AC=284, hom=2)19 overlapping SVs

1 paper

chr9:122615304 C>A

NM_012364.1

p.C189*

c.567C>A

7tm_4

exact variant not in gnomAD19 overlapping SVs

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