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.R60C

c.178C>T

Surrounding Variants

1 paper

NM_012190.4

p.R58fs

c.172_173fs

1 paper

NM_012190.4

p.A61V

c.182C>T

1 paper

NM_012190.4

p.R58Q

c.173G>A

1 paper

NM_012190.4

p.G63E

c.188G>A

1 paper

NM_012190.4

p.Q64R

c.191A>G

1 paper

NM_012190.4

p.F54_K55insFs

c.162_163insCA

1 paper

NM_012190.4

p.L66V

c.196T>G

1 paper

NM_012190.4

p.V53A

c.158T>C

1 paper

NM_012190.4

p.P67S

c.199C>T

1 paper

NM_012190.4

p.P67P

c.201T>C

1 paper

NM_012190.4

p.G50G

c.150A>T

1 paper

NM_012190.4

p.D49N

c.145G>A