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.A70V

c.209C>T

Surrounding Variants

1 paper

NM_002860.4

p.H69del1

c.205_206delATG

1 paper

NM_002860.4

p.H69L

c.206A>T

1 paper

NM_002860.4

p.L67M

c.199C>A

1 paper

NM_002860.4

p.V74M

c.220G>A

1 paper

NM_002860.4

p.V74V

c.222G>A

1 paper

NM_002860.4

p.S65N

c.194G>A

3 papers

NM_002860.4

p.R64H

c.191G>A

1 paper

NM_002860.4

p.K76T

c.227A>C

1 paper

NM_002860.4

p.K76K

c.228G>A

1 paper

NM_002860.4

p.H63L

c.188A>T

1 paper

NM_002860.4

p.H63Y

c.187C>T

1 paper

NM_002860.4

p.L77L

c.231C>A