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.E240V

c.719A>T

Surrounding Variants

1 paper

NM_001034173.4

p.E240K

c.718G>A

1 paper

NM_001034173.4

p.R247P

c.740G>C

1 paper

NM_001034173.4

p.N260S

c.779A>G

1 paper

NM_001034173.4

p.G219_A220delFs

c.657_658delCC

1 paper

NM_001034173.4

p.L204F

c.610C>T

1 paper

NM_001034173.4

p.Q203*

c.607C>T

1 paper

NM_001034173.4

p.V202A

c.605T>C

1 paper

NM_001034173.4

p.V276fs

c.826_827fs

1 paper

NM_001034173.4

p.V276delFs

c.827delA

1 paper

NM_001034173.4

p.K295_N296delFs

c.885_886delTT

1 paper

NM_001034173.4

p.D304Y

c.910G>T

1 paper

NM_001034173.4

p.A307_L308Splc

c.921+3G>A