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

1–12 of 378 variants

321 papers

NM_005956.4

p.R653Q

c.1958G>A

28 papers

NM_005956.4

p.K134R

c.401A>G

10 papers

NM_005956.4

p.R173C

c.517C>T

7 papers

NM_005956.4

p.D243Splc

c.727+1G>A

7 papers

NM_005956.4

p.R293H

c.878G>A

5 papers

NM_005956.4

p.A18V

c.53C>T

5 papers

NM_005956.4

p.T761M

c.2282C>T

4 papers

NM_005956.4

p.L769F

c.2305C>T

3 papers

NM_005956.4

p.S49F

c.146C>T

3 papers

NM_005956.4

p.T194P

c.580A>C

3 papers

NM_005956.4

p.Y240C

c.719A>G

3 papers

NM_005956.4

p.M278T

c.833T>C