Varaico: Literature-Extracted Genetic Variants

ACSS1

57 papers

RefSeq Summary

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA....

Pfam Domains

ACAS_Naa 58–114UCSCAcetyl-coenzyme A synthetase N-terminus

AMP-bindingaa 115–511UCSCAMP-binding enzyme

AMP-binding_Caa 564–642UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase short chain family member 1

HGNC Previous Symbol

ACAS2L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032501.4

p.R18delFs

c.53delC

Surrounding Variants

1 paper

NM_032501.4

p.Q23*

c.67C>T

1 paper

NM_032501.4

p.M1I

c.3G>T

1 paper

NM_032501.4

p.M1I

c.3G>C

1 paper

NM_032501.4

p.M1I

c.3G>A

1 paper

NM_032501.4

p.A53del1

c.157_159delTGC

1 paper

NM_032501.4

p.V82A

c.245T>C

1 paper

NM_032501.4

p.T85N

c.254C>A

2 papers

NM_032501.4

p.G106D

c.317G>A

1 paper

NM_032501.4

p.Q117*

c.349C>T

1 paper

NM_032501.4

p.S122Y

c.365C>A