Varaico: Literature-Extracted Genetic Variants

MTHFR

5,247 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation ...

Pfam Domains

MTHFRaa 88–377UCSCMethylenetetrahydrofolate reductase

MTHFR_Caa 384–684UCSCMTHFR, SAM-binding regulatory domain

Gene Aliases

HGNC Name

methylenetetrahydrofolate reductase

HGNC Previous Names

5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005957.5

p.V218A

c.653T>C

Surrounding Variants

4 papers

NM_005957.5

p.V218L

c.652G>T

4 papers

NM_005957.5

p.V218L

c.652G>C

1 paper

NM_005957.5

p.S219P

c.655T>C

1 paper

NM_005957.5

p.K217K

c.651G>A

1 paper

NM_005957.5

p.K217_V218insT

c.649_653ins3

2 papers

NM_005957.5

p.S219del1

c.655_657delAGA

1 paper

NM_005957.5

p.A220V

c.659C>T

1 paper

NM_005957.5

p.A220G

c.659C>G

1 paper

NM_005957.5

p.E216_K217insT

c.646_650ins3

5 papers

NM_005957.5

p.K215del1

c.643_645delCTT

2 papers

NM_005957.5

p.G221R

c.661G>C

2 papers

NM_005957.5

p.G221R

c.661G>A