Varaico: Literature-Extracted Genetic Variants

Gene:ACOT7
Variant:p.M1insFs

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 68–151UCSCThioesterase superfamily
4HBTaa 242–317UCSCThioesterase 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
1 paper
NM_007274.4
p.M1insFs
c.3dupG
Surrounding Variants
1 paper
NM_007274.4
p.A2insFs
c.5_6insAA
1 paper
NM_007274.4
p.A2A
c.6G>T
1 paper
NM_007274.4
p.A2T
c.4G>A
1 paper
NM_007274.4
p.M1insFs
c.2dupT
1 paper
NM_007274.4
p.M1delFs
c.2delA
1 paper
NM_007274.4
p.A2insFs
c.6dupG
1 paper
NM_007274.4
p.A2delFs
c.6delC
3 papers
NM_007274.4
p.M1T
c.2T>C
1 paper
NM_007274.4
p.R3R
c.9G>A
2 papers
NM_007274.4
p.M1V
c.1A>G
1 paper
NM_007274.4
p.P4T
c.10C>A
1 paper
NM_007274.4
p.P4L
c.11C>T
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