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.C143S

c.428G>C

Surrounding Variants

1 paper

NM_005956.4

p.C143S

c.427T>A

1 paper

NM_005956.4

p.C147G

c.439T>G

1 paper

NM_005956.4

p.D139V

c.416A>T

1 paper

NM_005956.4

p.T148A

c.442A>G

1 paper

NM_005956.4

p.A136T

c.406G>A

1 paper

NM_005956.4

p.G151E

c.452G>A

28 papers

NM_005956.4

p.K134R

c.401A>G

2 papers

NM_005956.4

p.E154K

c.460G>A

2 papers

NM_005956.4

p.N131S

c.392A>G

1 paper

NM_005956.4

p.I130V

c.388A>G

1 paper

NM_005956.4

p.E158V

c.473A>T

1 paper

NM_005956.4

p.T128I

c.383C>T