Varaico: Literature-Extracted Genetic Variants

ALDH1L1

205 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. T...

Pfam Domains

Formyl_trans_Naa 1–180UCSCFormyl transferase

Formyl_trans_Caa 204–310UCSCFormyl transferase, C-terminal domain

PP-bindingaa 325–391UCSCPhosphopantetheine attachment site

Aldedhaa 430–898UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 1 family member L1

HGNC Previous Symbol

FTHFD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012190.4

p.D793E

c.2379C>G

Surrounding Variants

1 paper

NM_012190.4

p.D793D

c.2379C>T

1 paper

NM_012190.4

p.D793E

c.2379C>A

4 papers

NM_012190.4

p.V794M

c.2380G>A

14 papers

NM_012190.4

p.D793G

c.2378A>G

1 paper

NM_012190.4

p.D793Y

c.2377G>T

1 paper

NM_012190.4

p.T789P

c.2365A>C

1 paper

NM_012190.4

p.E803K

c.2407G>A

9 papers

NM_012190.4

p.I812V

c.2434A>G

1 paper

NM_012190.4

p.A816_D817insGC

c.2446_2450ins6

1 paper

NM_012190.4

p.A822V

c.2465C>T

1 paper

NM_012190.4

p.T830M

c.2489C>T

1 paper

NM_012190.4

p.A835S

c.2503G>T