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.A253P

c.757G>C

Surrounding Variants

1 paper

NM_006859.4

p.P251S

c.751C>T

6 papers

NM_006859.4

p.R249H

c.746G>A

1 paper

NM_006859.4

p.S246Splc

c.738-2A>G

2 papers

NM_006859.4

p.H264Y

c.790C>T

1 paper

NM_006859.4

p.S274A

c.820T>G

1 paper

NM_006859.4

p.A295Splc

c.884-14T>A

3 papers

NM_006859.4

p.M310T

c.929T>C

1 paper

NM_006859.4

p.R315H

c.944G>A

1 paper

NM_006859.4

p.H236Q

c.708T>A

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