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

2 papers

NM_002860.4

p.D703H

c.2107G>C

Surrounding Variants

1 paper

NM_002860.4

p.H695R

c.2084A>G

1 paper

NM_002860.4

p.S694F

c.2081C>T

1 paper

NM_002860.4

p.E704Splc

c.2110+24A>T

2 papers

NM_002860.4

p.S693T

c.2078G>C

1 paper

NM_002860.4

p.I685T

c.2054T>C

1 paper

NM_002860.4

p.C674Y

c.2021G>A

1 paper

NM_002860.4

p.Y668C

c.2003A>G

8 papers

NM_002860.4

p.R665L

c.1994G>T

7 papers

NM_002860.4

p.R665Q

c.1994G>A

2 papers

NM_002860.4

p.S663*

c.1988C>G

3 papers

NM_001017423.2

p.S661*

c.1982C>A

NM_002860.4

p.S663*

c.1988C>A

1 paper

NM_002860.4

p.S659F

c.1976C>T