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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACSL1

Variant:p.H4Q

ACSL1

88 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 97–520UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acyl-CoA synthetase long chain family member 1

HGNC Previous Symbol

FACL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:184803503 A>C

NM_001995.5

p.H4Q

c.12T>G

Exome: 0.0% (AC=673, hom=0)Genome: n/a30 overlapping SVs

Surrounding Variants

1 paper

chr4:184803503 A>T

NM_001995.5

p.H4Q

c.12T>A

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:184803507 G>A

NM_001995.5

p.A3V

c.8C>T

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:184803499 G>C

NM_001995.5

p.L6V

c.16C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr4:184803454 A>T

NM_001995.5

p.Y21N

c.61T>A

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:184803447 C>T

NM_001995.5

p.R23H

c.68G>A

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=6, hom=0)30 overlapping SVs

1 paper

chr4:184803416 G>A

NM_001995.5

p.F33F

c.99C>T

Exome: 0.0% (AC=322, hom=0)Genome: 0.0% (AC=35, hom=0)30 overlapping SVs

1 paper

chr4:184803382 C>G

NM_001995.5

p.A45P

c.133G>C

exact variant not in gnomAD30 overlapping SVs

3 papers

chr4:184803378 G>A

NM_001995.5

p.T46M

c.137C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a30 overlapping SVs

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