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.F287Y

c.860T>A

Surrounding Variants

1 paper

NM_002860.4

p.G290insFs

c.868_869insT

3 papers

NM_002860.4

p.G290R

c.868G>C

3 papers

NM_002860.4

p.G290R

c.868G>A

1 paper

NM_002860.4

p.D291insFs

c.872_873insA

1 paper

NM_002860.4

p.L283F

c.847C>T

2 papers

NM_002860.4

p.S294P

c.880T>C

1 paper

NM_002860.4

p.G298V

c.893G>T

2 papers

NM_002860.4

p.G298_T299insFs

c.894_895insG

13 papers

NM_002860.4

p.T299I

c.896C>T

1 paper

NM_002860.4

p.P275S

c.823C>T

1 paper

NM_002860.4

p.K300M

c.899A>T

1 paper

NM_002860.4

p.S301_R302insFs

c.903_904insG