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

1–12 of 256 variants

14 papers

NM_012190.4

p.D793G

c.2378A>G

9 papers

NM_012190.4

p.I812V

c.2434A>G

7 papers

NM_012190.4

p.L254P

c.761T>C

7 papers

NM_012190.4

p.V330F

c.988G>T

7 papers

NM_012190.4

p.S481G

c.1441A>G

6 papers

NM_012190.4

p.R491G

c.1471A>G

4 papers

NM_012190.4

p.E340*

c.1018G>T

4 papers

NM_012190.4

p.V794M

c.2380G>A

3 papers

NM_012190.4

p.E14*

c.40G>T

3 papers

NM_012190.4

p.G23D

c.68G>A

3 papers

NM_012190.4

p.M380V

c.1138A>G

2 papers

NM_012190.4

p.R60C

c.178C>T