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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FABP2

Variant:p.G122E

FABP2

55 papers

RefSeq Summary

The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein ...

Pfam Domains

Lipocalinaa 4–132UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

fatty acid binding protein 2

HGNC Alias Symbol

I-FABP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:119319075 C>T

NM_000134.4

p.G122E

c.365G>A

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: n/a103 overlapping SVs

Surrounding Variants

2 papers

chr4:119319083 T>C

NM_000134.4

p.V119V

c.357A>G

Lipocalin

Exome: 32.4% (AC=465417, hom=77409)Genome: 33.7% (AC=51219, hom=8810)103 overlapping SVs

1 paper

chr4:119319057 A>G

NM_000134.4

p.I128T

c.383T>C

Lipocalin

exact variant not in gnomAD103 overlapping SVs

1 paper

chr4:119319539 G>A

NM_000134.4

p.V115V

c.345C>T

Lipocalin

Exome: 0.0% (AC=4, hom=0)Genome: n/a102 overlapping SVs

1 paper

chr4:119319580 C>T

NM_000134.4

p.E102K

c.304G>A

Lipocalin

Exome: 0.0% (AC=186, hom=0)Genome: 0.0% (AC=16, hom=0)102 overlapping SVs

1 paper

chr4:119319597 C>G

NM_000134.4

p.R96P

c.287G>C

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)102 overlapping SVs

2 papers

chr4:119319624 C>T

NM_000134.4

p.G87E

c.260G>A

Lipocalin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)102 overlapping SVs

1 paper

chr4:119319630 A>G

NM_000134.4

p.L85P

c.254T>C

Lipocalin

Exome: 0.0% (AC=0, hom=0)Genome: n/a102 overlapping SVs

1 paper

chr4:119320690 C>G

NM_000134.4

p.A74P

c.220G>C

Lipocalin

exact variant not in gnomAD102 overlapping SVs

1 paper

chr4:119320694 A>G

NM_000134.4

p.N72N

c.216T>C

Lipocalin

Exome: 56.7% (AC=816223, hom=232767)Genome: 56.7% (AC=86069, hom=24417)102 overlapping SVs

1 paper

chr4:119320740 C>T

NM_000134.4

p.R57Q

c.170G>A

Lipocalin

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)102 overlapping SVs

11 papers

chr4:119320747 T>C

NM_000134.4

p.T55A

c.163A>G

Lipocalin

Exome: 73.4% (AC=1065485, hom=391546)Genome: 73.9% (AC=112356, hom=41568)102 overlapping SVs

1 paper

chr4:119320798 T>G

NM_000134.4

p.K38Q

c.112A>C

Lipocalin

exact variant not in gnomAD102 overlapping SVs

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