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.E429G

c.1286A>G

Surrounding Variants

4 papers

NM_005957.5

p.E429V

c.1286A>T

508 papers

NM_005957.5

p.E429A

c.1286A>C

NM_001330358.2

p.E470A

c.1409A>C

3 papers

NM_005957.5

p.E429E

c.1287A>G

1 paper

NM_005957.5

p.E429D

c.1287A>C

1 paper

NM_005957.5

p.S430R

c.1288A>C

8 papers

NM_005957.5

p.E428A

c.1283A>C

1 paper

NM_005957.5

p.S430S

c.1290T>C

1 paper

NM_005957.5

p.F432F

c.1296T>C

1 paper

NM_005957.5

p.L418_L425del0

c.1252_1275del24

1 paper

NM_005957.5

p.L425R

c.1274T>G

58 papers

NM_005957.5

p.E433V

c.1298A>T

31 papers

NM_005957.5

p.E433G

c.1298A>G