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

1–12 of 65 variants

6 papers

NM_006859.4

p.R249H

c.746G>A

3 papers

NM_006859.4

p.E159K

c.475G>A

3 papers

NM_006859.4

p.D215E

c.645T>A

3 papers

NM_006859.4

p.D215E

c.645T>G

3 papers

NM_006859.4

p.M310T

c.929T>C

2 papers

NM_006859.4

p.V180A

c.539T>C

2 papers

NM_006859.4

p.R182Q

c.545G>A

2 papers

NM_006859.4

p.H264Y

c.790C>T

2 papers

NM_006859.4

p.W331R

c.991T>A

2 papers

NM_006859.4

p.W331R

c.991T>C

1 paper

NM_006859.4

p.M1L

c.1A>T

1 paper

NM_006859.4

p.S2Y

c.5C>A