Varaico: Literature-Extracted Genetic Variants

Gene:ACSL3
Variant:p.V398F

ACSL3

77 papers

RefSeq Summary

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, al...

Pfam Domains

AMP-bindingaa 113–540UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 3

HGNC Previous Symbol

FACL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004457.5
p.V398F
c.1192G>T
Surrounding Variants
1 paper
NM_004457.5
p.N393fs
c.1177_1178fs
1 paper
NM_004457.5
p.K392delFs
c.1174delA
1 paper
NM_004457.5
p.L411P
c.1232T>C
1 paper
NM_004457.5
p.Q419fs
c.1255_1256fs
1 paper
NM_004457.5
p.I420_S421insFs
c.1260_1261ins4
1 paper
NM_004457.5
p.S421insFs
c.1262_1263ins4
1 paper
NM_004457.5
p.D430N
c.1288G>A
1 paper
NM_004457.5
p.R348H
c.1043G>A
1 paper
NM_004457.5
p.S337N
c.1010G>A
1 paper
NM_004457.5
p.E335Fs
c.1003delinsGAFs
1 paper
NM_004457.5
p.R438R
c.1312C>A
1 paper
NM_004457.5
p.G442delFs
c.1324delG
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