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

1–12 of 983 variants

3418 papers

NM_005957.5

p.E433A

c.1298A>C

1006 papers

NM_005957.5

p.A222V

c.665C>T

506 papers

NM_005957.5

p.E429A

c.1286A>C

63 papers

NM_005957.5

p.R594Q

c.1781G>A

58 papers

NM_005957.5

p.E433V

c.1298A>T

42 papers

NM_005957.5

p.I226T

c.677T>C

31 papers

NM_005957.5

p.E433G

c.1298A>G

29 papers

NM_005957.5

p.R46W

c.136C>T

28 papers

NM_005957.5

p.R377C

c.1129C>T

25 papers

NM_005957.5

p.E470A

c.1409A>C

18 papers

NM_005957.5

p.R52Q

c.155G>A

17 papers

NM_005957.5

p.R157Q

c.470G>A