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.E256A

c.767A>C

Surrounding Variants

1 paper

NM_002860.4

p.E256K

c.766G>A

1 paper

NM_002860.4

p.V255M

c.763G>A

1 paper

NM_002860.4

p.A254S

c.760G>T

13 papers

NM_002860.4

p.R252Q

c.755G>A

1 paper

NM_002860.4

p.R252delFs

c.754delG

1 paper

NM_002860.4

p.L249P

c.746T>C

1 paper

NM_002860.4

p.S248R

c.744C>G

1 paper

NM_002860.4

p.S248R

c.744C>A

1 paper

NM_002860.4

p.S248N

c.743G>A

1 paper

NM_002860.4

p.S248R

c.742A>C

1 paper

NM_002860.4

p.D247A

c.740A>C

1 paper

NM_002860.4

p.S266P

c.796T>C