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.K58R

c.173A>G

Surrounding Variants

1 paper

NM_005956.4

p.K58N

c.174G>C

1 paper

NM_005956.4

p.L57P

c.170T>C

2 papers

NM_005956.4

p.K56T

c.167A>C

1 paper

NM_005956.4

p.K56R

c.167A>G

1 paper

NM_005956.4

p.K56M

c.167A>T

2 papers

NM_005956.4

p.K56Q

c.166A>C

2 papers

NM_005956.4

p.K56E

c.166A>G

1 paper

NM_005956.4

p.E62V

c.185A>T

1 paper

NM_005956.4

p.Y52S

c.155A>C

1 paper

NM_005956.4

p.Y52F

c.155A>T

1 paper

NM_005956.4

p.S49S

c.147C>A

3 papers

NM_005956.4

p.S49F

c.146C>T