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.D457V

c.1370A>T

Surrounding Variants

1 paper

NM_005957.5

p.P459S

c.1375C>T

2 papers

NM_005957.5

p.W455L

c.1364G>T

1 paper

NM_005957.5

p.L460V

c.1378C>G

1 paper

NM_005957.5

p.A461S

c.1381G>T

1 paper

NM_005957.5

p.A461V

c.1382C>T

1 paper

NM_005957.5

p.L453V

c.1357C>G

4 papers

NM_005957.5

p.E463Q

c.1387G>C

3 papers

NM_005957.5

p.E463D

c.1389G>T

3 papers

NM_005957.5

p.E463D

c.1389G>C

1 paper

NM_005957.5

p.V450G

c.1349T>G

1 paper

NM_005957.5

p.T464I

c.1391C>T

1 paper

NM_005957.5

p.V450L

c.1348G>T