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.G756E

c.2267G>A

Surrounding Variants

2 papers

NM_002860.4

p.T759I

c.2276C>T

1 paper

NM_002860.4

p.G753R

c.2257G>C

1 paper

NM_002860.4

p.L763L

c.2287C>T

6 papers

NM_002860.4

p.R749Q

c.2246G>A

4 papers

NM_002860.4

p.R765*

c.2293C>T

6 papers

NM_002860.4

p.R765Q

c.2294G>A

1 paper

NM_002860.4

p.D768Y

c.2302G>T

1 paper

NM_002860.4

p.S744S

c.2232G>A

2 papers

NM_002860.4

p.S744W

c.2231C>G

1 paper

NM_002860.4

p.V770M

c.2308G>A

6 papers

NM_002860.4

p.S742I

c.2225G>T

1 paper

NM_002860.4

p.F774V

c.2320T>G