Varaico: Literature-Extracted Genetic Variants

ACOT2

39 papers

RefSeq Summary

This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple tran...

Pfam Domains

Bile_Hydr_Transaa 78–203UCSCAcyl-CoA thioester hydrolase/BAAT N-terminal region

BAAT_Caa 265–474UCSCBAAT / Acyl-CoA thioester hydrolase C terminal

Gene Aliases

HGNC Name

acyl-CoA thioesterase 2

HGNC Alias Symbols

Mte1; ZAP128

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

3 papers

NM_006821.6

p.H328R

c.983A>G

3 papers

NM_006821.6

p.H475R

c.1424A>G

2 papers

NM_006821.6

p.G230S

c.688G>A

1 paper

NM_006821.6

p.M21I

c.63G>A

1 paper

NM_006821.6

p.M21I

c.63G>C

1 paper

NM_006821.6

p.M21I

c.63G>T

1 paper

NM_006821.6

p.P90Q

c.269C>A

1 paper

NM_006821.6

p.E91G

c.272A>G

1 paper

NM_006821.6

p.P93L

c.278C>T

1 paper

NM_006821.6

p.K104R

c.311A>G

1 paper

NM_006821.6

p.D177E

c.531C>A

1 paper

NM_006821.6

p.D177E

c.531C>G