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

58 papers

NM_005957.5

p.E433V

c.1298A>T

Surrounding Variants

31 papers

NM_005957.5

p.E433G

c.1298A>G

3418 papers

NM_005957.5

p.E433A

c.1298A>C

1 paper

NM_005957.5

p.E433E

c.1299A>G

2 papers

NM_005957.5

p.E433D

c.1299A>C

1 paper

NM_005957.5

p.F432F

c.1296T>C

1 paper

NM_005957.5

p.V434L

c.1300G>C

5 papers

NM_005957.5

p.F435S

c.1304T>C

9 papers

NM_005957.5

p.F435F

c.1305C>T

1 paper

NM_005957.5

p.F435fs

c.1303_1304fs

1 paper

NM_005957.5

p.S430S

c.1290T>C

2 papers

NM_005957.5

p.V436I

c.1306G>A

1 paper

NM_005957.5

p.F435delFs

c.1304_1305delGA