Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6
Variant:p.L65H

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.L65H
c.194T>A
Surrounding Variants
2 papers
NM_001009185.3
p.V56M
c.166G>A
1 paper
NM_001009185.3
p.A75A
c.225C>A
1 paper
NM_001009185.3
p.T53N
c.158C>A
1 paper
NM_001009185.3
p.P78L
c.233C>T
1 paper
NM_001009185.3
p.A52V
c.155C>T
1 paper
NM_001009185.3
p.P78P
c.234G>A
1 paper
NM_001009185.3
p.L50L
c.150C>A
1 paper
NM_001009185.3
p.P38P
c.114T>C
1 paper
NM_001009185.3
p.K25Q
c.73A>C
1 paper
NM_001009185.3
p.G93G
c.279C>G
1 paper
NM_001009185.3
p.A95V
c.284C>T
1 paper
NM_001009185.3
p.R97Q
c.290G>A
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