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

9 papers

NM_005957.5

p.T34A

c.100A>G

Surrounding Variants

1 paper

NM_005957.5

p.T34I

c.101C>T

1 paper

NM_005957.5

p.S33F

c.98C>T

1 paper

NM_005957.5

p.S33A

c.97T>G

1 paper

NM_005957.5

p.P35L

c.104C>T

1 paper

NM_005957.5

p.C32Y

c.95G>A

1 paper

NM_005957.5

p.C32G

c.94T>G

1 paper

NM_005957.5

p.G36G

c.108C>T

1 paper

NM_005957.5

p.L37L

c.109C>T

1 paper

NM_005957.5

p.S30S

c.90G>C

1 paper

NM_005957.5

p.S30A

c.88T>G

1 paper

NM_005957.5

p.D38Y

c.112G>T

1 paper

NM_005957.5

p.S29S

c.87T>C