Varaico: Literature-Extracted Genetic Variants

ALDH1L2

71 papers

RefSeq Summary

This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH)...

Pfam Domains

Formyl_trans_Naa 23–202UCSCFormyl transferase

Formyl_trans_Caa 226–330UCSCFormyl transferase, C-terminal domain

PP-bindingaa 346–411UCSCPhosphopantetheine attachment site

Aldedhaa 451–919UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 1 family member L2

HGNC Alias Symbols

FLJ38508; mtFDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001034173.4

p.W603*

c.1809G>A

Surrounding Variants

2 papers

NM_001034173.4

p.W603*

c.1808G>A

1 paper

NM_001034173.4

p.T578P

c.1732A>C

1 paper

NM_001034173.4

p.L577V

c.1729C>G

2 papers

NM_001034173.4

p.R572H

c.1715G>A

1 paper

NM_001034173.4

p.L524V

c.1570C>G

1 paper

NM_001034173.4

p.E522Q

c.1564G>C

1 paper

NM_001034173.4

p.G496S

c.1486G>A

1 paper

NM_001034173.4

p.A492G

c.1475C>G

1 paper

NM_001034173.4

p.D483H

c.1447G>C

1 paper

NM_001034173.4

p.A477T

c.1429G>A

1 paper

NM_001034173.4

p.Q621_V622Splc

c.1864-63G>A

1 paper

NM_001034173.4

p.D467V

c.1400A>T