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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR10J1

OR10J1

21 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

7tm_1aa 52–300UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

olfactory receptor family 10 subfamily J member 1

HGNC Alias Symbols

HGMP07J; HSHGMP07J

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 17 variants

3 papers

chr1:159440550 T>A

NM_012351.3

p.C253*

c.759T>A

7tm_4 7tm_1

Exome: 13.3% (AC=194810, hom=13652)Genome: 11.0% (AC=16663, hom=1149)228 overlapping SVs

2 papers

chr1:159440094 G>A

NM_012351.3

p.M101I

c.303G>A

7tm_4 7tm_1

Exome: 13.0% (AC=189624, hom=13437)Genome: 10.8% (AC=16456, hom=1141)228 overlapping SVs

2 papers

chr1:159440094 G>C

NM_012351.3

p.M101I

c.303G>C

7tm_4 7tm_1

exact variant not in gnomAD228 overlapping SVs

2 papers

chr1:159440094 G>T

NM_012351.3

p.M101I

c.303G>T

7tm_4 7tm_1

exact variant not in gnomAD228 overlapping SVs

1 paper

chr1:159439860 G>C

NM_012351.3

p.Q23H

c.69G>C

exact variant not in gnomAD228 overlapping SVs

1 paper

chr1:159439860 G>T

NM_012351.3

p.Q23H

c.69G>T

Exome: n/aGenome: 0.0% (AC=1, hom=0)228 overlapping SVs

1 paper

chr1:159439919 T>C

NM_012351.3

p.I43T

c.128T>C

7tm_4

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)228 overlapping SVs

1 paper

chr1:159440000 A>G

NM_012351.3

p.E70G

c.209A>G

7tm_4 7tm_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a228 overlapping SVs

1 paper

chr1:159440246 G>A

NM_012351.3

p.G152E

c.455G>A

7tm_4 7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a228 overlapping SVs

1 paper

chr1:159440272 A>C

NM_012351.3

p.T161P

c.481A>C

7tm_4 7tm_1

exact variant not in gnomAD228 overlapping SVs

1 paper

chr1:159440275 T>A

NM_012351.3

p.S162T

c.484T>A

7tm_4 7tm_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)228 overlapping SVs

1 paper

chr1:159440353 T>G

NM_012351.3

p.C188G

c.562T>G

7tm_4 7tm_1

exact variant not in gnomAD228 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."