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

2 papers

NM_005956.4

p.D235E

c.705C>A

Surrounding Variants

2 papers

NM_005956.4

p.D235E

c.705C>G

1 paper

NM_005956.4

p.D235N

c.703G>A

1 paper

NM_005956.4

p.I234V

c.700A>G

2 papers

NM_005956.4

p.V233V

c.699C>T

1 paper

NM_005956.4

p.I238L

c.712A>C

1 paper

NM_005956.4

p.I238M

c.714C>G

1 paper

NM_005956.4

p.N239S

c.716A>G

1 paper

NM_005956.4

p.I232fs

c.694_695fs

3 papers

NM_005956.4

p.Y240C

c.719A>G

7 papers

NM_005956.4

p.D243Splc

c.727+1G>A

1 paper

NM_005956.4

p.E225D

c.675G>C

1 paper

NM_005956.4

p.E225D

c.675G>T