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

Selected Variant

2 papers

NM_007274.4

p.A24A

c.72C>A

Surrounding Variants

1 paper

NM_007274.4

p.A24A

c.72C>T

1 paper

NM_007274.4

p.A27T

c.79G>A

1 paper

NM_007274.4

p.L20R

c.59T>G

1 paper

NM_007274.4

p.A29V

c.86C>T

1 paper

NM_007274.4

p.A30T

c.88G>A

1 paper

NM_007274.4

p.M33L

c.97A>T

3 papers

NM_007274.4

p.M33R

c.98T>G

1 paper

NM_007274.4

p.S34L

c.101C>T

1 paper

NM_007274.4

p.P14S

c.40C>T

1 paper

NM_007274.4

p.P14A

c.40C>G

2 papers

NM_007274.4

p.P14T

c.40C>A

2 papers

NM_007274.4

p.L13Q

c.38T>A