Varaico: Literature-Extracted Genetic Variants

Gene:ACSL6
Variant:p.R365C

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.R365C
c.1093C>T
Surrounding Variants
1 paper
NM_001009185.3
p.G367S
c.1099G>A
1 paper
NM_001009185.3
p.F368V
c.1102T>G
1 paper
NM_001009185.3
p.H362Y
c.1084C>T
1 paper
NM_001009185.3
p.Y360delFs
c.1079_1080delAT
1 paper
NM_001009185.3
p.Y360fs
c.1078_1079fs
1 paper
NM_001009185.3
p.Q370P
c.1109A>C
1 paper
NM_001009185.3
p.R374C
c.1120C>T
1 paper
NM_001009185.3
p.S377L
c.1130C>T
1 paper
NM_001009185.3
p.A382S
c.1144G>T
1 paper
NM_001009185.3
p.F388L
c.1164C>A
2 papers
NM_001009185.3
p.P389L
c.1166C>T
1 paper
NM_001009185.3
p.R397W
c.1189C>T
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