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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OBP2A

OBP2A

24 papers

RefSeq Summary

This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus t...

Pfam Domains

Lipocalinaa 26–131UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

odorant binding protein 2A

HGNC Alias Symbols

hOBPIIa; LCN13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

3 papers

chr9:135547240 T>A

NM_014582.3

p.F90Y

c.269T>A

Lipocalin

Exome: 1.9% (AC=26927, hom=324)Genome: 1.7% (AC=2584, hom=26)5 overlapping SVs

2 papers

chr9:135547946 G>A

NM_014582.3

p.R118H

c.353G>A

Lipocalin

Exome: 3.9% (AC=56606, hom=1357)Genome: 3.4% (AC=5182, hom=133)5 overlapping SVs

2 papers

chr9:135547982 G>C

NM_014582.3

p.G130A

c.389G>C

exact variant not in gnomAD5 overlapping SVs

2 papers

chr9:135548716 C>T

NM_014582.3

p.P133S

c.397C>T

Lipocalin

Exome: 25.6% (AC=373880, hom=49598)Genome: 22.0% (AC=33475, hom=3864)10 overlapping SVs

2 papers

chr9:135548743 G>A

NM_014582.3

p.E142K

c.424G>A

Lipocalin

Exome: 0.3% (AC=4700, hom=14)Genome: 0.2% (AC=320, hom=1)10 overlapping SVs

1 paper

chr9:135546814 G>A

NM_014582.3

p.D37N

c.109G>A

Lipocalin

Exome: 0.0% (AC=157, hom=0)Genome: 0.0% (AC=24, hom=0)5 overlapping SVs

1 paper

chr9:135546820 G>A

NM_014582.3

p.D39N

c.115G>A

Lipocalin

Exome: 0.0% (AC=2, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr9:135546829 G>A

NM_014582.3

p.E42K

c.124G>A

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr9:135546857 C>A

NM_014582.3

p.P51Q

c.152C>A

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr9:135547216 G>A

NM_014582.3

p.R82Q

c.245G>A

Lipocalin

Exome: 0.0% (AC=206, hom=1)Genome: 0.0% (AC=30, hom=1)5 overlapping SVs

1 paper

chr9:135547886 T>C

NM_014582.3

p.L98P

c.293T>C

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr9:135547909 G>A

NM_014582.3

p.G106R

c.316G>A

Lipocalin

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=23, 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."