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.T712_V713Splc

c.2136+31G>A

Surrounding Variants

2 papers

NM_005956.4

p.G710S

c.2128G>A

1 paper

NM_005956.4

p.G709D

c.2126G>A

1 paper

NM_005956.4

p.L704H

c.2111T>A

1 paper

NM_005956.4

p.R702W

c.2104A>T

1 paper

NM_005956.4

p.V698L

c.2092G>C

1 paper

NM_005956.4

p.V694A

c.2081T>C

1 paper

NM_005956.4

p.H693D

c.2077C>G

2 papers

NM_005956.4

p.R686Q

c.2057G>A

1 paper

NM_005956.4

p.C685*

c.2055C>A

1 paper

NM_005956.4

p.G676E

c.2027G>A

1 paper

NM_005956.4

p.A673delFs

c.2019delA

1 paper

NM_005956.4

p.A673T

c.2017G>A