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

2 papers

NM_005957.5

p.I226N

c.677T>A

Surrounding Variants

42 papers

NM_005957.5

p.I226T

c.677T>C

1 paper

NM_005957.5

p.I226I

c.678C>T

1 paper

NM_005957.5

p.I226I

c.678C>A

2 papers

NM_005957.5

p.I226V

c.676A>G

2 papers

NM_005957.5

p.I225_I226Fs

c.675_676delinsGFs

11 papers

NM_005957.5

p.T227M

c.680C>T

1 paper

NM_005957.5

p.T227K

c.680C>A

3 papers

NM_005957.5

p.I226_T227del1

c.677_679delTGA

2 papers

NM_005957.5

p.T227T

c.681G>A

1 paper

NM_005957.5

p.I225F

c.673A>T

4 papers

NM_005957.5

p.I225V

c.673A>G

5 papers

NM_005957.5

p.I225L

c.673A>C