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.V659V

c.1977T>C

Surrounding Variants

1 paper

NM_005956.4

p.R653R

c.1959G>A

321 papers

NM_005956.4

p.R653Q

c.1958G>A

1 paper

NM_005956.4

p.R653P

c.1958G>C

1 paper

NM_005956.4

p.R653G

c.1957C>G

1 paper

NM_005956.4

p.I650T

c.1949T>C

1 paper

NM_005956.4

p.G637C

c.1909G>T

1 paper

NM_005956.4

p.A636G

c.1907C>G

1 paper

NM_005956.4

p.V634V

c.1902C>T

1 paper

NM_005956.4

p.V634A

c.1901T>C

1 paper

NM_005956.4

p.A673T

c.2017G>A

1 paper

NM_005956.4

p.A673delFs

c.2019delA

1 paper

NM_005956.4

p.G676E

c.2027G>A