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.K754delFs

c.2261delT

Surrounding Variants

1 paper

NM_001034173.4

p.K754*

c.2260A>T

1 paper

NM_001034173.4

p.D766V

c.2297A>T

1 paper

NM_001034173.4

p.H767R

c.2300A>G

1 paper

NM_001034173.4

p.V794L

c.2380G>T

1 paper

NM_001034173.4

p.V794L

c.2380G>C

1 paper

NM_001034173.4

p.G796E

c.2387G>A

1 paper

NM_001034173.4

p.V811A

c.2432T>C

1 paper

NM_001034173.4

p.D817G

c.2450A>G

1 paper

NM_001034173.4

p.E824Q

c.2470G>C

1 paper

NM_001034173.4

p.E824G

c.2471A>G

1 paper

NM_001034173.4

p.P829H

c.2486C>A

1 paper

NM_001034173.4

p.R733W

c.2197C>T