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.K20I

c.59A>T

Surrounding Variants

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

1 paper

NM_001034173.4

p.S39R

c.117C>A

1 paper

NM_001034173.4

p.H46N

c.136C>A

1 paper

NM_001034173.4

p.R47*

c.139C>T

1 paper

NM_001034173.4

p.V51insFs

c.153dupG

1 paper

NM_001034173.4

p.E93G

c.278A>G

1 paper

NM_001034173.4

p.S97S

c.291C>T

1 paper

NM_001034173.4

p.E101K

c.301G>A

1 paper

NM_001034173.4

p.L105P

c.314T>C