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

1 paper

NM_012190.4

p.A184G

c.551C>G

Surrounding Variants

1 paper

NM_012190.4

p.A184V

c.551C>T

1 paper

NM_012190.4

p.I183I

c.549C>T

1 paper

NM_012190.4

p.R181S

c.543G>T

1 paper

NM_012190.4

p.R181S

c.543G>C

1 paper

NM_012190.4

p.E195Q

c.583G>C

1 paper

NM_012190.4

p.E195D

c.585G>T

1 paper

NM_012190.4

p.E195D

c.585G>C

1 paper

NM_012190.4

p.Y200C

c.599A>G

1 paper

NM_012190.4

p.E201*

c.601G>T

1 paper

NM_012190.4

p.E201K

c.601G>A

1 paper

NM_012190.4

p.T208I

c.623C>T

1 paper

NM_012190.4

p.K210M

c.629A>T