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.S716G

c.2146A>G

Surrounding Variants

8 papers

NM_002860.4

p.D715H

c.2143G>C

1 paper

NM_002860.4

p.E708_H713del6

c.2122_2138del18

1 paper

NM_002860.4

p.C718_V719ins9

c.2152_2156ins27

1 paper

NM_002860.4

p.V714I

c.2140G>A

3 papers

NM_002860.4

p.L711delFs

c.2131delG

4 papers

NM_002860.4

p.L711fs

c.2131_2132fs

1 paper

NM_002860.4

p.S724N

c.2171G>A

1 paper

NM_002860.4

p.R726C

c.2176C>T

1 paper

NM_002860.4

p.T706A

c.2116A>G

1 paper

NM_002860.4

p.R726L

c.2177G>T

1 paper

NM_002860.4

p.R726H

c.2177G>A

1 paper

NM_002860.4

p.D729V

c.2186A>T