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.V253V

c.759C>T

Surrounding Variants

6 papers

NM_005957.5

p.P254S

c.760C>T

6 papers

NM_005957.5

p.V253F

c.757G>T

1 paper

NM_005957.5

p.V253I

c.757G>A

1 paper

NM_005957.5

p.G255R

c.763G>C

1 paper

NM_005957.5

p.G255R

c.763G>A

4 papers

NM_005957.5

p.G255V

c.764G>T

4 papers

NM_005957.5

p.G255G

c.765G>C

4 papers

NM_005957.5

p.P251L

c.752C>T

2 papers

NM_005957.5

p.I256V

c.766A>G

6 papers

NM_005957.5

p.I256N

c.767T>A

1 paper

NM_005957.5

p.I256I

c.768C>T

1 paper

NM_005957.5

p.C250W

c.750C>G