Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6
Variant:p.V288_P289Splc

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.V288_P289Splc
c.864+21G>A
Surrounding Variants
1 paper
NM_001009185.3
p.E282*
c.844G>T
1 paper
NM_001009185.3
p.C279G
c.835T>G
1 paper
NM_001009185.3
p.D278Y
c.832G>T
1 paper
NM_001009185.3
p.E261E
c.783G>A
1 paper
NM_001009185.3
p.V288_P289Splc
c.865-8C>G
1 paper
NM_001009185.3
p.G245S
c.733G>A
1 paper
NM_001009185.3
p.P290fs
c.868_869fs
1 paper
NM_001009185.3
p.P290L
c.869C>T
1 paper
NM_001009185.3
p.P244L
c.731C>T
1 paper
NM_001009185.3
p.P290delFs
c.869delG
1 paper
NM_001009185.3
p.P292H
c.875C>A
1 paper
NM_001009185.3
p.V298G
c.893T>G
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