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

2 papers

NM_012190.4

p.A78A

c.234C>T

Surrounding Variants

1 paper

NM_012190.4

p.E79V

c.236A>T

1 paper

NM_012190.4

p.E79D

c.237G>T

1 paper

NM_012190.4

p.E79D

c.237G>C

1 paper

NM_012190.4

p.L80I

c.238C>A

1 paper

NM_012190.4

p.L76F

c.228G>T

1 paper

NM_012190.4

p.L76F

c.228G>C

1 paper

NM_012190.4

p.V82G

c.245T>G

1 paper

NM_012190.4

p.Q74Q

c.222G>A

1 paper

NM_012190.4

p.K72N

c.216A>T

1 paper

NM_012190.4

p.K72N

c.216A>C

1 paper

NM_012190.4

p.F85F

c.255C>T

1 paper

NM_012190.4

p.F85L

c.255C>A