Varaico: Literature-Extracted Genetic Variants

ACOT7

333 papers

RefSeq Summary

This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be ass...

Pfam Domains

4HBTaa 68–151UCSCThioesterase superfamily

4HBTaa 242–317UCSCThioesterase superfamily

Gene Aliases

HGNC Name

acyl-CoA thioesterase 7

HGNC Alias Symbols

ACH1; ACT; CTE-II; LACH1; MGC1126; hBACH

Papers

RefSeq ID

Protein change

DNA change

1–12 of 177 variants

3 papers

NM_007274.4

p.M1T

c.2T>C

3 papers

NM_007274.4

p.M33R

c.98T>G

2 papers

NM_007274.4

p.M1V

c.1A>G

2 papers

NM_007274.4

p.G5A

c.14G>C

2 papers

NM_007274.4

p.G12C

c.34G>T

2 papers

NM_007274.4

p.G12R

c.34G>C

2 papers

NM_007274.4

p.G12S

c.34G>A

2 papers

NM_007274.4

p.G12V

c.35G>T

2 papers

NM_007274.4

p.G12D

c.35G>A

2 papers

NM_007274.4

p.L13Q

c.38T>A

2 papers

NM_007274.4

p.P14T

c.40C>A

2 papers

NM_007274.4

p.A24A

c.72C>A