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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR1E1

OR1E1

24 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 E member 1

HGNC Previous Symbols

OR1E9P; OR1E5; OR1E6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 27 variants

2 papers

chr17:3397984 C>T

NM_003553.3

p.A143T

c.427G>A

7tm_4

Exome: 2.8% (AC=40996, hom=650)Genome: 2.1% (AC=3159, hom=64)17 overlapping SVs

2 papers

chr17:3397845 A>C

NM_003553.3

p.F189C

c.566T>G

7tm_4

Exome: 0.2% (AC=2940, hom=23)Genome: 0.7% (AC=1033, hom=4)17 overlapping SVs

1 paper

chr17:3398241 G>A

NM_003553.3

p.T57M

c.170C>T

7tm_4

Exome: 0.0% (AC=506, hom=3)Genome: 0.0% (AC=54, hom=0)17 overlapping SVs

1 paper

chr17:3398236 T>C

NM_003553.3

p.M59V

c.175A>G

7tm_4

Exome: 0.0% (AC=562, hom=0)Genome: 0.0% (AC=44, hom=0)17 overlapping SVs

1 paper

chr17:3398208 A>G

NM_003553.3

p.F68S

c.203T>C

7tm_4

Exome: n/aGenome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr17:3398151 T>C

NM_003553.3

p.N87S

c.260A>G

7tm_4

exact variant not in gnomAD17 overlapping SVs

1 paper

chr17:3398149 G>T

NM_003553.3

p.Q88K

c.262C>A

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr17:3398137 GAT>N

NM_003553.3

p.I92fs

c.274_275fs

7tm_4

exact variant not in gnomAD17 overlapping SVs

1 paper

chr17:3398127 G>A

NM_003553.3

p.A95V

c.284C>T

7tm_4

Exome: 0.0% (AC=450, hom=4)Genome: 0.0% (AC=31, hom=0)17 overlapping SVs

1 paper

chr17:3398125 C>A

NM_003553.3

p.D96Y

c.286G>T

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr17:3398120 G>C

NM_003553.3

p.C97W

c.291C>G

7tm_4

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=3, hom=0)17 overlapping SVs

1 paper

chr17:3398046 C>T

NM_003553.3

p.R122H

c.365G>A

7tm_4

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=3, hom=0)17 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."