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.T25A

c.73A>G

Surrounding Variants

1 paper

NM_005956.4

p.Q23R

c.68A>G

1 paper

NM_005956.4

p.K28N

c.84G>C

1 paper

NM_005956.4

p.K28N

c.84G>T

1 paper

NM_005956.4

p.L20M

c.58C>A

1 paper

NM_005956.4

p.Q30R

c.89A>G

5 papers

NM_005956.4

p.A18V

c.53C>T

1 paper

NM_005956.4

p.P32T

c.94C>A

1 paper

NM_005956.4

p.R17G

c.49A>G

1 paper

NM_005956.4

p.I16T

c.47T>C

1 paper

NM_005956.4

p.T35I

c.104C>T

1 paper

NM_005956.4

p.R37S

c.109C>A

1 paper

NM_005956.4

p.R37C

c.109C>T