Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6
Variant:p.G129Splc

ACSL6

90 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in t...

Pfam Domains

AMP-bindingaa 104–520UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 6

HGNC Previous Symbol

FACL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009185.3
p.G129Splc
c.386-31T>C
Surrounding Variants
1 paper
NM_001009185.3
p.G129Splc
c.386-12A>G
1 paper
NM_001009185.3
p.R123H
c.368G>A
2 papers
NM_001009185.3
p.V151M
c.451G>A
1 paper
NM_001009185.3
p.A114T
c.340G>A
1 paper
NM_001009185.3
p.L158R
c.473T>G
1 paper
NM_001009185.3
p.G159delins
c.475_476delinsAA
2 papers
NM_001009185.3
p.Y110*
c.330C>G
3 papers
NM_001009185.3
p.Y110*
c.330C>A
1 paper
NM_001009185.3
p.T108P
c.322A>C
1 paper
NM_001009185.3
p.R97Q
c.290G>A
1 paper
NM_001009185.3
p.A95V
c.284C>T
1 paper
NM_001009185.3
p.I175F
c.523A>T
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