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.F630C

c.1889T>G

Surrounding Variants

9 papers

NM_002860.4

p.L637P

c.1910T>C

3 papers

NM_002860.4

p.D623N

c.1867G>A

2 papers

NM_002860.4

p.R622W

c.1864C>T

NM_001017423.2

p.R620W

c.1858C>T

6 papers

NM_002860.4

p.Q641_V642Splc

c.1923+1G>A

1 paper

NM_002860.4

p.P609_A610insFs

c.1827_1828insG

4 papers

NM_002860.4

p.V601fs

c.1801_1802fs

1 paper

NM_002860.4

p.V601Splc

c.1801+50C>T

2 papers

NM_002860.4

p.V597delFs

c.1789delC

1 paper

NM_002860.4

p.V597I

c.1789G>A

1 paper

NM_002860.4

p.D595N

c.1783G>A

1 paper

NM_002860.4

p.S593T

c.1778G>C

6 papers

NM_002860.4

p.E581K

c.1741G>A