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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR2T34

OR2T34

52 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 36–313UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 2 subfamily T member 34

HGNC Previous Name

olfactory receptor, family 2, subfamily T, member 34

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

6 papers

chr1:248573958 C>G

NM_001001821.1

p.R267P

c.800G>C

7tm_4

Exome: 99.9% (AC=791289, hom=395512)Genome: 99.0% (AC=76518, hom=38044)20 overlapping SVs

5 papers

chr1:248574363 C>T

NM_001001821.1

p.C132Y

c.395G>A

7tm_4

Exome: 9.2% (AC=97849, hom=1762)Genome: 13.7% (AC=15440, hom=130)20 overlapping SVs

4 papers

chr1:248574294 A>G

NM_001001821.1

p.V155A

c.464T>C

7tm_4

Exome: 24.9% (AC=298575, hom=12845)Genome: 25.7% (AC=29114, hom=1565)20 overlapping SVs

4 papers

chr1:248574018 G>A

NM_001001821.1

p.S247F

c.740C>T

7tm_4

Exome: 10.5% (AC=149070, hom=979)Genome: 15.2% (AC=19689, hom=852)20 overlapping SVs

3 papers

chr1:248574514 T>A

NM_001001821.1

p.T82S

c.244A>T

7tm_4

exact variant not in gnomAD20 overlapping SVs

3 papers

chr1:248574433 G>A

NM_001001821.1

p.H109Y

c.325C>T

7tm_4

Exome: 4.1% (AC=50912, hom=5080)Genome: 19.4% (AC=17921, hom=796)20 overlapping SVs

3 papers

chr1:248574210 A>G

NM_001001821.1

p.F183S

c.548T>C

7tm_4

Exome: 11.1% (AC=159640, hom=460)Genome: 14.2% (AC=20215, hom=334)20 overlapping SVs

3 papers

chr1:248574028 C>T

NM_001001821.1

p.A244T

c.730G>A

7tm_4

Exome: 10.0% (AC=145439, hom=1988)Genome: 10.6% (AC=14067, hom=359)20 overlapping SVs

2 papers

chr1:248574153 A>G

NM_001001821.1

p.M202T

c.605T>C

7tm_4

Exome: 8.9% (AC=125343, hom=1324)Genome: 9.5% (AC=13307, hom=438)20 overlapping SVs

2 papers

chr1:248573929 T>C

NM_001001821.1

p.M277V

c.829A>G

7tm_4

Exome: 12.2% (AC=119177, hom=545)Genome: 16.3% (AC=13884, hom=366)20 overlapping SVs

2 papers

chr1:248573866 G>A

NM_001001821.1

p.R298C

c.892C>T

7tm_4

Exome: 15.6% (AC=160518, hom=2645)Genome: 21.1% (AC=14888, hom=263)20 overlapping SVs

1 paper

chr1:248574735 G>A

NM_001001821.1

p.S8F

c.23C>T

exact variant not in gnomAD19 overlapping SVs

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