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.I259V

c.775A>G

Surrounding Variants

1 paper

NM_005957.5

p.I259I

c.777C>T

1 paper

NM_005957.5

p.I259I

c.777C>A

2 papers

NM_005957.5

p.P258S

c.772C>T

1 paper

NM_005957.5

p.Q260*

c.778C>T

1 paper

NM_005957.5

p.F257Y

c.770T>A

1 paper

NM_005957.5

p.G247_F257del0

c.740_769del30

4 papers

NM_005957.5

p.F257V

c.769T>G

2 papers

NM_005957.5

p.Q260_G261Splc

c.780+1G>T

3 papers

NM_005957.5

p.Q260_G261Splc

c.780+1G>A

1 paper

NM_005957.5

p.I256I

c.768C>T

6 papers

NM_005957.5

p.I256N

c.767T>A

2 papers

NM_005957.5

p.Q260_G261Splc

c.780+3G>A