Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6
Variant:p.Q180E

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.Q180E
c.538C>G
Surrounding Variants
1 paper
NM_001009185.3
p.R182Q
c.545G>A
1 paper
NM_001009185.3
p.I175M
c.525T>G
1 paper
NM_001009185.3
p.I175F
c.523A>T
1 paper
NM_001009185.3
p.G159delins
c.475_476delinsAA
1 paper
NM_001009185.3
p.L158R
c.473T>G
2 papers
NM_001009185.3
p.V151M
c.451G>A
1 paper
NM_001009185.3
p.P201L
c.602C>T
1 paper
NM_001009185.3
p.G207V
c.620G>T
1 paper
NM_001009185.3
p.G129Splc
c.386-12A>G
1 paper
NM_001009185.3
p.G129Splc
c.386-31T>C
1 paper
NM_001009185.3
p.A218Splc
c.653-33C>T
1 paper
NM_001009185.3
p.D219N
c.655G>A
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