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.G718*

c.2152G>T

Surrounding Variants

1 paper

NM_001034173.4

p.A719T

c.2155G>A

1 paper

NM_001034173.4

p.C728fs

c.2182_2183fs

1 paper

NM_001034173.4

p.R733W

c.2197C>T

1 paper

NM_001034173.4

p.K754*

c.2260A>T

1 paper

NM_001034173.4

p.K754delFs

c.2261delT

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.L709F

c.2125C>T

1 paper

NM_001034173.4

p.C707R

c.2119T>C