Varaico: Literature-Extracted Genetic Variants

MTHFD1L

93 papers

RefSeq Summary

The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regenerati...

Pfam Domains

THF_DHG_CYHaa 70–180UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

THF_DHG_CYH_Caa 201–304UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

FTHFSaa 360–978UCSCFormate--tetrahydrofolate ligase

Gene Aliases

HGNC Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like

HGNC Previous Symbol

FTHFSDC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015440.5

p.D108N

c.322G>A

Surrounding Variants

1 paper

NM_015440.5

p.Q112P

c.335A>C

1 paper

NM_015440.5

p.E121Q

c.361G>C

1 paper

NM_015440.5

p.E121A

c.362A>C

1 paper

NM_015440.5

p.E121D

c.363G>C

1 paper

NM_015440.5

p.E121D

c.363G>T

1 paper

NM_015440.5

p.I129I

c.387T>C

1 paper

NM_015440.5

p.C130R

c.388T>C

1 paper

NM_015440.5

p.P132S

c.394C>T

2 papers

NM_015440.5

p.D134G

c.401A>G

1 paper

NM_015440.5

p.L100L

c.300T>A

1 paper

NM_015440.5

p.I141V

c.421A>G

1 paper

NM_015440.5

p.I144V

c.430A>G