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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OR4F21

Variant:p.V219I

OR4F21

10 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 31–305UCSCOlfactory receptor

Gene Aliases

HGNC Name

olfactory receptor family 4 subfamily F member 21

HGNC Previous Symbol

OR4F21P

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:166370 C>T

NM_001005504.1

p.V219I

c.655G>A

7tm_4

Exome: 4.7% (AC=17422, hom=341)Genome: 7.3% (AC=1135, hom=1)5 overlapping SVs

Surrounding Variants

1 paper

chr8:166526 C>G

NM_001005504.1

p.A167P

c.499G>C

7tm_4

Exome: 2.0% (AC=15316, hom=1600)Genome: 4.6% (AC=1694, hom=1)5 overlapping SVs

1 paper

chr8:166190 T>A

NM_001005504.1

p.T279S

c.835A>T

7tm_4

Exome: 2.0% (AC=6276, hom=698)Genome: 11.3% (AC=1113, hom=111)5 overlapping SVs

1 paper

chr8:166189 G>C

NM_001005504.1

p.T279S

c.836C>G

7tm_4

exact variant not in gnomAD5 overlapping SVs

1 paper

chr8:166165 T>C

NM_001005504.1

p.Y287C

c.860A>G

7tm_4

Exome: 0.2% (AC=613, hom=60)Genome: 3.5% (AC=403, hom=35)5 overlapping SVs

1 paper

chr8:166096 T>C

NM_001005504.1

p.K310R

c.929A>G

Exome: 0.8% (AC=2275, hom=343)Genome: 0.4% (AC=65, hom=9)5 overlapping SVs

1 paper

chr8:166723 A>T

NM_001005504.1

p.I101N

c.302T>A

7tm_4

exact variant not in gnomAD5 overlapping SVs

2 papers

chr8:166783 A>G

NM_001005504.1

p.M81T

c.242T>C

7tm_4

Exome: 0.0% (AC=124, hom=7)Genome: 0.1% (AC=40, hom=0)5 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."