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

3 papers

NM_012190.4

p.G23D

c.68G>A

Surrounding Variants

1 paper

NM_012190.4

p.G23G

c.69C>A

1 paper

NM_012190.4

p.H24Q

c.72C>A

1 paper

NM_012190.4

p.E25G

c.74A>G

1 paper

NM_012190.4

p.K21R

c.62A>G

1 paper

NM_012190.4

p.E25delFs

c.73delC

3 papers

NM_012190.4

p.E14*

c.40G>T

1 paper

NM_012190.4

p.Q13R

c.38A>G

1 paper

NM_012190.4

p.K38M

c.113A>T

1 paper

NM_012190.4

p.Q8R

c.23A>G

1 paper

NM_012190.4

p.A39V

c.116C>T

1 paper

NM_012190.4

p.G7R

c.19G>A

1 paper

NM_012190.4

p.V5insFs

c.15dupG