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.V192L

c.574G>C

Surrounding Variants

1 paper

NM_005956.4

p.V192L

c.574G>T

1 paper

NM_005956.4

p.V192G

c.575T>G

1 paper

NM_005956.4

p.T191K

c.572C>A

1 paper

NM_005956.4

p.T191P

c.571A>C

1 paper

NM_005956.4

p.T193P

c.577A>C

1 paper

NM_005956.4

p.T191A

c.571A>G

1 paper

NM_005956.4

p.T193A

c.577A>G

1 paper

NM_005956.4

p.T193I

c.578C>T

3 papers

NM_005956.4

p.T194P

c.580A>C

1 paper

NM_005956.4

p.A190P

c.568G>C

1 paper

NM_005956.4

p.T194I

c.581C>T

1 paper

NM_005956.4

p.N189S

c.566A>G