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.V40D

c.119T>A

Surrounding Variants

2 papers

NM_002860.4

p.R41C

c.121C>T

1 paper

NM_002860.4

p.R38T

c.113G>C

1 paper

NM_002860.4

p.S44delFs

c.130delT

1 paper

NM_002860.4

p.S35P

c.103T>C

1 paper

NM_002860.4

p.P34insFs

c.100_101insA

1 paper

NM_002860.4

p.P47L

c.140C>T

1 paper

NM_002860.4

p.T50S

c.148A>T

1 paper

NM_002860.4

p.T50A

c.148A>G

1 paper

NM_002860.4

p.P52L

c.155C>T

2 papers

NM_002860.4

p.G58D

c.173G>A

1 paper

NM_002860.4

p.G58G

c.174C>G

3 papers

NM_002860.4

p.K59fs

c.175_176fs