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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR4F17

Variant:p.W142R

OR4F17

9 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 23–296UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 4 subfamily F member 17

HGNC Previous Symbols

OR4F19; OR4F11P; OR4F18

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:111102 T>C

NM_001005240.3

p.W142R

c.424T>C

7tm_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

Surrounding Variants

1 paper

chr19:111102 T>A

NM_001005240.3

p.W142R

c.424T>A

7tm_4

exact variant not in gnomAD2 overlapping SVs

4 papers

chr19:111016 T>G

NM_001005240.3

p.F113C

c.338T>G

7tm_4

Exome: 28.9% (AC=218899, hom=47)Genome: 20.3% (AC=25252, hom=4)2 overlapping SVs

1 paper

chr19:111333 C>T

NM_001005240.3

p.Q219*

c.655C>T

7tm_4

Exome: 0.0% (AC=172, hom=0)Genome: 0.1% (AC=186, hom=0)2 overlapping SVs

2 papers

chr19:111436 G>A

NM_001005240.3

p.W253*

c.758G>A

7tm_4

exact variant not in gnomAD2 overlapping SVs

2 papers

chr19:111437 G>A

NM_001005240.3

p.W253*

c.759G>A

7tm_4

Exome: 0.8% (AC=4301, hom=1)Genome: 0.6% (AC=832, hom=0)2 overlapping SVs

1 paper

chr19:110680 T>A

NM_001005240.3

p.M1K

c.2T>A

exact variant not in gnomAD2 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."