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

16 papers

NM_005957.5

p.R68Q

c.203G>A

Surrounding Variants

4 papers

NM_005957.5

p.R68*

c.202C>T

11 papers

NM_005957.5

p.R68G

c.202C>G

1 paper

NM_005957.5

p.T69A

c.205A>G

2 papers

NM_005957.5

p.P67S

c.199C>T

7 papers

NM_005957.5

p.P66L

c.197C>T

1 paper

NM_005957.5

p.A70V

c.209C>T

1 paper

NM_005957.5

p.E71Q

c.211G>C

2 papers

NM_005957.5

p.F65L

c.195C>G

1 paper

NM_005957.5

p.F65L

c.195C>A

1 paper

NM_005957.5

p.F65L

c.193T>C

1 paper

NM_005957.5

p.G72_A73insFs

c.216_217insT

1 paper

NM_005957.5

p.A73S

c.217G>T