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.A164V

c.491C>T

Surrounding Variants

1 paper

NM_005956.4

p.G165R

c.493G>A

1 paper

NM_005956.4

p.G165R

c.493G>C

1 paper

NM_005956.4

p.I163T

c.488T>C

1 paper

NM_005956.4

p.R166G

c.496A>G

2 papers

NM_005956.4

p.P162L

c.485C>T

1 paper

NM_005956.4

p.R166K

c.497G>A

1 paper

NM_005956.4

p.H167Y

c.499C>T

1 paper

NM_005956.4

p.A168A

c.504T>C

1 paper

NM_005956.4

p.V170M

c.508G>A

10 papers

NM_005956.4

p.R173C

c.517C>T

1 paper

NM_005956.4

p.R173H

c.518G>A

1 paper

NM_005956.4

p.I176M

c.528A>G