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

7 papers

NM_012190.4

p.S481G

c.1441A>G

Surrounding Variants

1 paper

NM_012190.4

p.S481N

c.1442G>A

1 paper

NM_012190.4

p.K479N

c.1437G>T

1 paper

NM_012190.4

p.K479N

c.1437G>C

1 paper

NM_012190.4

p.A482A

c.1446G>A

6 papers

NM_012190.4

p.R491G

c.1471A>G

1 paper

NM_012190.4

p.D470N

c.1408G>A

1 paper

NM_012190.4

p.A467S

c.1399G>T

1 paper

NM_012190.4

p.A466V

c.1397C>T

1 paper

NM_012190.4

p.A464T

c.1390G>A

1 paper

NM_012190.4

p.V458G

c.1373T>G

1 paper

NM_012190.4

p.S454T

c.1360T>A

1 paper

NM_012190.4

p.C451Y

c.1352G>A