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.L709F

c.2125C>T

Surrounding Variants

1 paper

NM_001034173.4

p.C707R

c.2119T>C

1 paper

NM_001034173.4

p.S699C

c.2096C>G

1 paper

NM_001034173.4

p.G697V

c.2090G>T

1 paper

NM_001034173.4

p.G696S

c.2086G>A

1 paper

NM_001034173.4

p.S682Splc

c.2046-93G>T

2 papers

NM_001034173.4

p.R665H

c.1994G>A

1 paper

NM_001034173.4

p.R657_L658del2

c.1969_1973del6

1 paper

NM_001034173.4

p.R657_L658del1

c.1970_1972delGAC

1 paper

NM_001034173.4

p.G655G

c.1965A>G

1 paper

NM_001034173.4

p.G651Splc

c.1952-60A>G

1 paper

NM_001034173.4

p.Q621_V622Splc

c.1864-63G>A

1 paper

NM_001034173.4

p.G718*

c.2152G>T