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.M380V

c.1138A>G

Surrounding Variants

1 paper

NM_012190.4

p.V378L

c.1132G>T

1 paper

NM_012190.4

p.E376G

c.1127A>G

2 papers

NM_012190.4

p.E372*

c.1114G>T

1 paper

NM_012190.4

p.M380_I388delFs

c.1140_1162del23

1 paper

NM_012190.4

p.D369V

c.1106A>T

1 paper

NM_012190.4

p.V392M

c.1174G>A

1 paper

NM_012190.4

p.V364L

c.1090G>T

1 paper

NM_012190.4

p.V364L

c.1090G>C

2 papers

NM_012190.4

p.R396*

c.1186C>T

1 paper

NM_012190.4

p.G397A

c.1190G>C

2 papers

NM_012190.4

p.V361M

c.1081G>A

1 paper

NM_012190.4

p.D399A

c.1196A>C