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

1–12 of 354 variants

25 papers

NM_002860.4

p.R84Q

c.251G>A

16 papers

NM_002860.4

p.R425C

c.1273C>T

14 papers

NM_002860.4

p.H784Y

c.2350C>T

13 papers

NM_002860.4

p.R252Q

c.755G>A

13 papers

NM_002860.4

p.T299I

c.896C>T

11 papers

NM_002860.4

p.R128H

c.383G>A

9 papers

NM_002860.4

p.R138Q

c.413G>A

9 papers

NM_002860.4

p.L637P

c.1910T>C

8 papers

NM_002860.4

p.G93R

c.277G>C

8 papers

NM_002860.4

p.G93R

c.277G>A

8 papers

NM_002860.4

p.R665L

c.1994G>T

8 papers

NM_002860.4

p.D715H

c.2143G>C