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.L177R

c.530T>G

Surrounding Variants

1 paper

NM_006859.4

p.Y174_V175delFs

c.522_523delTG

2 papers

NM_006859.4

p.V180A

c.539T>C

1 paper

NM_006859.4

p.D181V

c.542A>T

2 papers

NM_006859.4

p.R182Q

c.545G>A

1 paper

NM_006859.4

p.E169E

c.507A>G

1 paper

NM_006859.4

p.I167F

c.499A>T

1 paper

NM_006859.4

p.A164V

c.491C>T

1 paper

NM_006859.4

p.T163I

c.488C>T

3 papers

NM_006859.4

p.E159K

c.475G>A

1 paper

NM_006859.4

p.E159del1

c.475_477delGAG

1 paper

NM_006859.4

p.F143I

c.427T>A

1 paper

NM_006859.4

p.R142K

c.425G>A