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.I322V

c.964A>G

Surrounding Variants

1 paper

NM_005956.4

p.I320V

c.958A>G

1 paper

NM_005956.4

p.R324*

c.970C>T

1 paper

NM_005956.4

p.R324L

c.971G>T

1 paper

NM_005956.4

p.C326Y

c.977G>A

3 papers

NM_005956.4

p.P328L

c.983C>T

1 paper

NM_005956.4

p.P330S

c.988C>T

1 paper

NM_005956.4

p.I331T

c.992T>C

1 paper

NM_005956.4

p.G339R

c.1015G>C

1 paper

NM_005956.4

p.L341Q

c.1022T>A

1 paper

NM_005956.4

p.L341P

c.1022T>C

1 paper

NM_005956.4

p.V345I

c.1033G>A

1 paper

NM_005956.4

p.V345A

c.1034T>C