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

5 papers

NM_002860.4

p.R441*

c.1321C>T

Surrounding Variants

1 paper

NM_002860.4

p.L436insFs

c.1307_1308insT

1 paper

NM_002860.4

p.A445G

c.1334C>G

1 paper

NM_002860.4

p.N434Y

c.1300A>T

1 paper

NM_002860.4

p.L433delFs

c.1298delA

1 paper

NM_002860.4

p.T430_K432del3

c.1288_1295del9

1 paper

NM_002860.4

p.D449G

c.1346A>G

1 paper

NM_002860.4

p.K432I

c.1295A>T

1 paper

NM_002860.4

p.S431A

c.1291T>G

2 papers

NM_002860.4

p.V451M

c.1351G>A

1 paper

NM_002860.4

p.R453H

c.1358G>A

3 papers

NM_002860.4

p.L455S

c.1364T>C

2 papers

NM_002860.4

p.L455F

c.1365G>T