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.N212K

c.636C>G

Surrounding Variants

1 paper

NM_012190.4

p.N212K

c.636C>A

1 paper

NM_012190.4

p.P216L

c.647C>T

1 paper

NM_012190.4

p.H221P

c.662A>C

1 paper

NM_012190.4

p.R225C

c.673C>T

1 paper

NM_012190.4

p.P231S

c.691C>T

1 paper

NM_012190.4

p.P231P

c.693G>A

1 paper

NM_012190.4

p.G232E

c.695G>A

1 paper

NM_012190.4

p.A237S

c.709G>T

1 paper

NM_012190.4

p.C238Y

c.713G>A

1 paper

NM_012190.4

p.E239D

c.717A>T

1 paper

NM_012190.4

p.E239D

c.717A>C

1 paper

NM_012190.4

p.K210N

c.630G>C