Varaico: Literature-Extracted Genetic Variants

MTHFD1

490 papers

RefSeq Summary

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate...

Pfam Domains

THF_DHG_CYHaa 7–125UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

THF_DHG_CYH_Caa 146–295UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

FTHFSaa 317–910UCSCFormate--tetrahydrofolate ligase

Gene Aliases

HGNC Name

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

HGNC Previous Symbol

MTHFC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005956.4

p.G254S

c.760G>A

Surrounding Variants

1 paper

NM_005956.4

p.V252L

c.754G>C

1 paper

NM_005956.4

p.R250K

c.749G>A

2 papers

NM_005956.4

p.D259E

c.777C>A

2 papers

NM_005956.4

p.D259E

c.777C>G

1 paper

NM_005956.4

p.N248H

c.742A>C

1 paper

NM_005956.4

p.N248D

c.742A>G

1 paper

NM_005956.4

p.P247Q

c.740C>A

1 paper

NM_005956.4

p.P247R

c.740C>G

1 paper

NM_005956.4

p.P247T

c.739C>A

1 paper

NM_005956.4

p.P247S

c.739C>T

1 paper

NM_005956.4

p.P247fs

c.739_740fs

1 paper

NM_005956.4

p.A265V

c.794C>T