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

Selected Variant

3 papers

NM_006821.6

p.H475R

c.1424A>G

Surrounding Variants

1 paper

NM_006821.6

p.S481*

c.1442C>A

1 paper

NM_006821.6

p.S481*

c.1442C>G

1 paper

NM_006821.6

p.Q463*

c.1387C>T

1 paper

NM_006821.6

p.Q457*

c.1369C>T

1 paper

NM_006821.6

p.I414I

c.1242C>T

1 paper

NM_006821.6

p.D356N

c.1066G>A

1 paper

NM_006821.6

p.G350G

c.1050C>A

1 paper

NM_006821.6

p.L334P

c.1001T>C

3 papers

NM_006821.6

p.H328R

c.983A>G

1 paper

NM_006821.6

p.G296E

c.887G>A

1 paper

NM_006821.6

p.L290M

c.868C>A

1 paper

NM_006821.6

p.P286L

c.857C>T