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

11 papers

NM_002860.4

p.R128H

c.383G>A

Surrounding Variants

1 paper

NM_002860.4

p.R128C

c.382C>T

1 paper

NM_002860.4

p.H129Q

c.387T>G

1 paper

NM_002860.4

p.H129Q

c.387T>A

1 paper

NM_002860.4

p.E130Q

c.388G>C

3 papers

NM_002860.4

p.R126H

c.377G>A

1 paper

NM_002860.4

p.Q125delFs

c.373_374delTG

1 paper

NM_002860.4

p.Q125R

c.374A>G

1 paper

NM_002860.4

p.L133insFs

c.397_398ins8

1 paper

NM_002860.4

p.G123D

c.368G>A

1 paper

NM_002860.4

p.G123C

c.367G>T

1 paper

NM_002860.4

p.S134A

c.400T>G

1 paper

NM_002860.4

p.S134P

c.400T>C