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.M110T

c.329T>C

Surrounding Variants

3 papers

NM_005957.5

p.M110I

c.330G>T

3 papers

NM_005957.5

p.M110I

c.330G>C

3 papers

NM_005957.5

p.M110I

c.330G>A

1 paper

NM_005957.5

p.S108insFs

c.323_324ins10

1 paper

NM_005957.5

p.M111I

c.333G>T

1 paper

NM_005957.5

p.M111I

c.333G>C

1 paper

NM_005957.5

p.M111I

c.333G>A

2 papers

NM_005957.5

p.S108F

c.323C>T

1 paper

NM_005957.5

p.I112I

c.336C>T

2 papers

NM_005957.5

p.A113S

c.337G>T

7 papers

NM_005957.5

p.A113T

c.337G>A

1 paper

NM_005957.5

p.S114G

c.340A>G