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.D595N

c.1783G>A

Surrounding Variants

1 paper

NM_002860.4

p.S593T

c.1778G>C

1 paper

NM_002860.4

p.V597I

c.1789G>A

2 papers

NM_002860.4

p.V597delFs

c.1789delC

6 papers

NM_002860.4

p.E581K

c.1741G>A

1 paper

NM_002860.4

p.S580R

c.1740C>G

1 paper

NM_002860.4

p.S580R

c.1740C>A

1 paper

NM_002860.4

p.S580R

c.1738A>C

2 papers

NM_002860.4

p.H579Q

c.1737C>G

2 papers

NM_002860.4

p.H579Q

c.1737C>A

1 paper

NM_002860.4

p.V576L

c.1726G>T

1 paper

NM_002860.4

p.V576L

c.1726G>C

1 paper

NM_002860.4

p.V601Splc

c.1801+50C>T