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.C250R

c.748T>C

Surrounding Variants

1 paper

NM_005957.5

p.C250Y

c.749G>A

1 paper

NM_005957.5

p.C250W

c.750C>G

1 paper

NM_005957.5

p.T249A

c.745A>G

4 papers

NM_005957.5

p.P251L

c.752C>T

3 papers

NM_005957.5

p.I248V

c.742A>G

1 paper

NM_005957.5

p.G247D

c.740G>A

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.M246K

c.737T>A

1 paper

NM_005957.5

p.V253V

c.759C>T

6 papers

NM_005957.5

p.P254S

c.760C>T

1 paper

NM_005957.5

p.G255R

c.763G>C