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.L242M

c.724C>A

Surrounding Variants

1 paper

NM_012190.4

p.T251P

c.751A>C

1 paper

NM_012190.4

p.G253A

c.758G>C

7 papers

NM_012190.4

p.L254P

c.761T>C

2 papers

NM_012190.4

p.E257K

c.769G>A

1 paper

NM_012190.4

p.D259E

c.777C>G

1 paper

NM_012190.4

p.D259E

c.777C>A

1 paper

NM_012190.4

p.P264_G265insCA

c.790_794ins6

1 paper

NM_012190.4

p.H267Y

c.799C>T

1 paper

NM_012190.4

p.P269S

c.805C>T

1 paper

NM_012190.4

p.V272_T273insFs

c.816_817insGC

1 paper

NM_012190.4

p.K274E

c.820A>G

1 paper

NM_012190.4

p.E239D

c.717A>T