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.M1L

c.1A>T

Surrounding Variants

1 paper

NM_006859.4

p.S2Y

c.5C>A

1 paper

NM_006859.4

p.R4H

c.11G>A

1 paper

NM_006859.4

p.C5fs

c.13_14fs

1 paper

NM_006859.4

p.R15_V16Splc

c.45+15G>A

1 paper

NM_006859.4

p.L28insFs

c.82_83ins8

1 paper

NM_006859.4

p.D33N

c.97G>A

1 paper

NM_006859.4

p.K34_K35delFs

c.100_103del4

1 paper

NM_006859.4

p.K34E

c.100A>G

1 paper

NM_006859.4

p.K34*

c.100A>T

1 paper

NM_006859.4

p.K36fs

c.106_107fs

1 paper

NM_006859.4

p.E37V

c.110A>T

1 paper

NM_006859.4

p.Q40L

c.119A>T