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.V330F

c.988G>T

Surrounding Variants

2 papers

NM_012190.4

p.R333Q

c.998G>A

1 paper

NM_012190.4

p.L339R

c.1016T>G

4 papers

NM_012190.4

p.E340*

c.1018G>T

1 paper

NM_012190.4

p.E340K

c.1018G>A

1 paper

NM_012190.4

p.E340G

c.1019A>G

1 paper

NM_012190.4

p.D346N

c.1036G>A

1 paper

NM_012190.4

p.F347S

c.1040T>C

2 papers

NM_012190.4

p.S354A

c.1060T>G

1 paper

NM_012190.4

p.S354insFs

c.1061_1062ins8

1 paper

NM_012190.4

p.D346_S354del9

c.1036_1061del27

2 papers

NM_012190.4

p.V357I

c.1069G>A

1 paper

NM_012190.4

p.A326insFs

c.976dupG