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

1 paper

NM_001034173.4

p.I195T

c.584T>C

Surrounding Variants

1 paper

NM_001034173.4

p.L185P

c.554T>C

1 paper

NM_001034173.4

p.A184V

c.551C>T

1 paper

NM_001034173.4

p.A184G

c.551C>G

1 paper

NM_001034173.4

p.V176I

c.526G>A

1 paper

NM_001034173.4

p.P167T

c.499C>A

1 paper

NM_001034173.4

p.G162S

c.484G>A

1 paper

NM_001034173.4

p.G137R

c.409G>C

1 paper

NM_001034173.4

p.G137R

c.409G>A

2 papers

NM_001034173.4

p.P133H

c.398C>A

1 paper

NM_001034173.4

p.Y127*

c.381T>G

1 paper

NM_001034173.4

p.Y127*

c.381T>A

1 paper

NM_001034173.4

p.P120Q

c.359C>A