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

1–12 of 101 variants

2 papers

NM_001034173.4

p.P133H

c.398C>A

2 papers

NM_001034173.4

p.T329M

c.986C>T

2 papers

NM_001034173.4

p.R572H

c.1715G>A

2 papers

NM_001034173.4

p.W603*

c.1808G>A

2 papers

NM_001034173.4

p.W603*

c.1809G>A

2 papers

NM_001034173.4

p.R665H

c.1994G>A

1 paper

NM_001034173.4

p.R10G

c.28C>G

1 paper

NM_001034173.4

p.K20I

c.59A>T

1 paper

NM_001034173.4

p.L27P

c.80T>C

1 paper

NM_001034173.4

p.V37L

c.109G>C

1 paper

NM_001034173.4

p.S39R

c.115A>C

1 paper

NM_001034173.4

p.S39R

c.117C>G