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.G794C

c.2380G>T

Surrounding Variants

1 paper

NM_005956.4

p.T786S

c.2357C>G

1 paper

NM_005956.4

p.T786S

c.2356A>T

1 paper

NM_005956.4

p.V802I

c.2404G>A

1 paper

NM_005956.4

p.Q803R

c.2408A>G

1 paper

NM_005956.4

p.K784K

c.2352G>A

1 paper

NM_005956.4

p.K784M

c.2351A>T

1 paper

NM_005956.4

p.Q807E

c.2419C>G

1 paper

NM_005956.4

p.S810N

c.2429G>A

1 paper

NM_005956.4

p.R775R

c.2323A>C

1 paper

NM_005956.4

p.R772H

c.2315G>A

2 papers

NM_005956.4

p.R772L

c.2315G>T

1 paper

NM_005956.4

p.R772C

c.2314C>T