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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR13D1

OR13D1

6 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 30–308UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 13 subfamily D member 1

HGNC Previous Name

olfactory receptor, family 13, subfamily D, member 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr9:104694518 A>G

NM_001004484.2

p.M1V

c.1A>G

exact variant not in gnomAD17 overlapping SVs

1 paper

chr9:104694714 T>A

NM_001004484.2

p.L66H

c.197T>A

7tm_4

Exome: 0.3% (AC=4948, hom=6)Genome: 0.2% (AC=302, hom=2)17 overlapping SVs

1 paper

chr9:104694748 C>T

NM_001004484.2

p.S77S

c.231C>T

7tm_4

exact variant not in gnomAD17 overlapping SVs

1 paper

chr9:104695197 G>A

NM_001004484.2

p.R227K

c.680G>A

7tm_4

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

1 paper

chr9:104695236 C>T

NM_001004484.2

p.T240I

c.719C>T

7tm_4

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr9:104695452 T>A

NM_001004484.2

p.L312*

c.935T>A

exact variant not in gnomAD18 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."