Varaico: Literature-Extracted Genetic Variants

LIAS

79 papers

RefSeq Summary

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for t...

Pfam Domains

LIAS_Naa 16–111UCSCN-terminal domain of lipoyl synthase of Radical_SAM family

Radical_SAMaa 131–296UCSCRadical SAM superfamily

Gene Aliases

HGNC Name

lipoic acid synthetase

HGNC Alias Name

Lipoyl synthase, mitochondrial

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006859.4

p.H236Q

c.708T>A

Surrounding Variants

1 paper

NM_006859.4

p.H236Q

c.708T>G

1 paper

NM_006859.4

p.R217*

c.649C>T

3 papers

NM_006859.4

p.D215E

c.645T>A

3 papers

NM_006859.4

p.D215E

c.645T>G

1 paper

NM_006859.4

p.L208F

c.622C>T

1 paper

NM_006859.4

p.E202K

c.604G>A

1 paper

NM_006859.4

p.V197I

c.589G>A

1 paper

NM_006859.4

p.T196N

c.587C>A

1 paper

NM_006859.4

p.E191insFs

c.572_573ins4

1 paper

NM_006859.4

p.G189R

c.565G>A

1 paper

NM_006859.4

p.G189R

c.565G>C

1 paper

NM_006859.4

p.G189delFs

c.566delG