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.M221I

c.663G>T

Surrounding Variants

1 paper

NM_005956.4

p.M221I

c.663G>A

1 paper

NM_005956.4

p.M221I

c.663G>C

1 paper

NM_005956.4

p.E225*

c.673G>T

1 paper

NM_005956.4

p.E225D

c.675G>C

1 paper

NM_005956.4

p.E225D

c.675G>T

1 paper

NM_005956.4

p.T216S

c.647C>G

1 paper

NM_005956.4

p.T216A

c.646A>G

1 paper

NM_005956.4

p.T216S

c.646A>T

1 paper

NM_005956.4

p.V213L

c.637G>C

1 paper

NM_005956.4

p.I211M

c.633C>G

1 paper

NM_005956.4

p.I232fs

c.694_695fs

1 paper

NM_005956.4

p.I211N

c.632T>A