Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1L2
Variant:p.R10G

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.R10G
c.28C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."