Varaico: Literature-Extracted Genetic Variants

MTHFD2

87 papers

RefSeq Summary

This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a hom...

Pfam Domains

THF_DHG_CYHaa 40–155UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

THF_DHG_CYH_Caa 174–332UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

Gene Aliases

HGNC Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006636.4

p.A18V

c.53C>T

Surrounding Variants

1 paper

NM_006636.4

p.P17L

c.50C>T

1 paper

NM_006636.4

p.H19Q

c.57C>A

1 paper

NM_006636.4

p.H19Q

c.57C>G

1 paper

NM_006636.4

p.S20S

c.60C>T

1 paper

NM_006636.4

p.V33G

c.98T>G

1 paper

NM_006636.4

p.R34Splc

c.101+3323C>T

1 paper

NM_006636.4

p.S41delFs

c.122_123delCT

1 paper

NM_006636.4

p.G42V

c.125G>T

1 paper

NM_006636.4

p.G42G

c.126A>T

1 paper

NM_006636.4

p.K44Q

c.130A>C

1 paper

NM_006636.4

p.K44R

c.131A>G

1 paper

NM_006636.4

p.K50Q

c.148A>C