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

3 papers

NM_005957.5

p.V117M

c.349G>A

Surrounding Variants

1 paper

NM_005957.5

p.T115_A116delFs

c.344_347del4

1 paper

NM_005957.5

p.A116A

c.348C>T

10 papers

NM_005957.5

p.A116T

c.346G>A

1 paper

NM_005957.5

p.N118S

c.353A>G

1 paper

NM_005957.5

p.T115I

c.344C>T

2 papers

NM_005957.5

p.S114N

c.341G>A

1 paper

NM_005957.5

p.S114G

c.340A>G

3 papers

NM_005957.5

p.C120Y

c.359G>A

1 paper

NM_005957.5

p.C120W

c.360T>G

1 paper

NM_005957.5

p.C120*

c.360T>A

2 papers

NM_005957.5

p.A113S

c.337G>T

7 papers

NM_005957.5

p.A113T

c.337G>A