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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OXCT2

OXCT2

51 papers

RefSeq Summary

The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitocho...

Pfam Domains

CoA_transaa 43–272UCSCCoenzyme A transferase

CoA_transaa 299–498UCSCCoenzyme A transferase

Gene Aliases

HGNC Name

3-oxoacid CoA-transferase 2

HGNC Alias Symbols

FKSG25; FLJ00030; SCOT-T

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 41 variants

7 papers

chr1:39769776 C>T

NM_022120.2

p.D494N

c.1480G>A

CoA_trans

Exome: 8.1% (AC=75454, hom=60)Genome: 10.4% (AC=10228, hom=5)168 overlapping SVs

4 papers

chr1:39770456 T>C

NM_022120.2

p.D267G

c.800A>G

CoA_trans

Exome: 0.1% (AC=1220, hom=67)Genome: 0.8% (AC=1194, hom=22)168 overlapping SVs

4 papers

chr1:39770402 A>C

NM_022120.2

p.L285R

c.854T>G

Exome: 15.3% (AC=177715, hom=40123)Genome: 26.1% (AC=34092, hom=5480)168 overlapping SVs

4 papers

chr1:39769817 T>C

NM_022120.2

p.E480G

c.1439A>G

CoA_trans

Exome: 20.4% (AC=110851, hom=1314)Genome: 37.7% (AC=29793, hom=174)168 overlapping SVs

3 papers

chr1:39770124 C>T

NM_022120.2

p.A378T

c.1132G>A

CoA_trans

Exome: 0.3% (AC=2523, hom=0)Genome: 0.1% (AC=104, hom=0)168 overlapping SVs

2 papers

chr1:39771132 A>G

NM_022120.2

p.F42L

c.124T>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)168 overlapping SVs

2 papers

chr1:39771130 G>C

NM_022120.2

p.F42L

c.126C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a168 overlapping SVs

2 papers

chr1:39771130 G>T

NM_022120.2

p.F42L

c.126C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a168 overlapping SVs

1 paper

chr1:39770721 G>A

NM_022120.2

p.H179Y

c.535C>T

CoA_trans

exact variant not in gnomAD168 overlapping SVs

1 paper

chr1:39770693 T>C

NM_022120.2

p.E188G

c.563A>G

CoA_trans

exact variant not in gnomAD168 overlapping SVs

1 paper

chr1:39770649 T>C

NM_022120.2

p.I203V

c.607A>G

CoA_trans

Exome: 0.2% (AC=2205, hom=21)Genome: 0.1% (AC=154, hom=0)168 overlapping SVs

1 paper

chr1:39770584 C>T

NM_022120.2

p.R224R

c.672G>A

CoA_trans

exact variant not in gnomAD168 overlapping SVs

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