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.T562T

c.1686C>T

Surrounding Variants

1 paper

NM_032501.4

p.E564D

c.1692G>T

1 paper

NM_032501.4

p.E564D

c.1692G>C

1 paper

NM_032501.4

p.E566K

c.1696G>A

1 paper

NM_032501.4

p.R548Q

c.1643G>A

1 paper

NM_032501.4

p.R537*

c.1609C>T

1 paper

NM_032501.4

p.V580F

c.1738G>T

2 papers

NM_032501.4

p.Y583*

c.1749C>G

2 papers

NM_032501.4

p.Y583*

c.1749C>A

1 paper

NM_032501.4

p.H585H

c.1755C>T

1 paper

NM_032501.4

p.D586N

c.1756G>A

1 paper

NM_032501.4

p.F517S

c.1550T>C

1 paper

NM_032501.4

p.V488M

c.1462G>A