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.P111T

c.331C>A

Surrounding Variants

1 paper

NM_012190.4

p.L110I

c.328C>A

1 paper

NM_012190.4

p.S108A

c.322T>G

1 paper

NM_012190.4

p.P107delFs

c.320delG

1 paper

NM_012190.4

p.P107L

c.320C>T

1 paper

NM_012190.4

p.H106Q

c.318C>G

1 paper

NM_012190.4

p.H106Q

c.318C>A

1 paper

NM_012190.4

p.H106L

c.317A>T

1 paper

NM_012190.4

p.H106R

c.317A>G

1 paper

NM_012190.4

p.H106D

c.316C>G

1 paper

NM_012190.4

p.H106N

c.316C>A

1 paper

NM_012190.4

p.I104N

c.311T>A

1 paper

NM_012190.4

p.A116_A118del0

c.346_354del9