Varaico: Literature-Extracted Genetic Variants

ALDH18A1

450 papers

RefSeq Summary

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reducta...

Pfam Domains

AA_kinaseaa 71–329UCSCAmino acid kinase family

Aldedhaa 353–664UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 18 family member A1

HGNC Previous Symbols

GSAS; PYCS; SPG9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002860.4

p.A461T

c.1381G>A

Surrounding Variants

1 paper

NM_002860.4

p.T458A

c.1372A>G

1 paper

NM_002860.4

p.E465K

c.1393G>A

1 paper

NM_002860.4

p.R457C

c.1369C>T

3 papers

NM_002860.4

p.R456H

c.1367G>A

2 papers

NM_002860.4

p.L455F

c.1365G>T

2 papers

NM_002860.4

p.L455F

c.1365G>C

3 papers

NM_002860.4

p.L455S

c.1364T>C

1 paper

NM_002860.4

p.E467E

c.1401A>G

1 paper

NM_002860.4

p.R453H

c.1358G>A

2 papers

NM_002860.4

p.V451M

c.1351G>A

1 paper

NM_002860.4

p.V471I

c.1411G>A

1 paper

NM_002860.4

p.D449G

c.1346A>G