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

25 papers

NM_002860.4

p.R84Q

c.251G>A

Surrounding Variants

1 paper

NM_002860.4

p.R84*

c.250C>T

1 paper

NM_002860.4

p.R84R

c.252A>G

1 paper

NM_002860.4

p.G78_S79insC

c.232_236ins3

1 paper

NM_002860.4

p.G78R

c.232G>C

1 paper

NM_002860.4

p.L77L

c.231C>A

1 paper

NM_002860.4

p.K76K

c.228G>A

1 paper

NM_002860.4

p.L92Q

c.275T>A

1 paper

NM_002860.4

p.K76T

c.227A>C

8 papers

NM_002860.4

p.G93R

c.277G>C

8 papers

NM_002860.4

p.G93R

c.277G>A

1 paper

NM_002860.4

p.V74V

c.222G>A

1 paper

NM_002860.4

p.V74M

c.220G>A