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.N3N

c.9C>T

Surrounding Variants

1 paper

NM_005957.5

p.E4*

c.10G>T

1 paper

NM_005957.5

p.E4G

c.11A>G

3 papers

NM_005957.5

p.V2V

c.6G>A

2 papers

NM_005957.5

p.E4D

c.12A>T

1 paper

NM_005957.5

p.V2A

c.5T>C

1 paper

NM_005957.5

p.V2M

c.4G>A

1 paper

NM_005957.5

p.A5V

c.14C>T

1 paper

NM_005957.5

p.M1I

c.3G>T

1 paper

NM_005957.5

p.M1_V2insFs

c.3_4insT

2 papers

NM_005957.5

p.M1I

c.3G>C

2 papers

NM_005957.5

p.M1I

c.3G>A

1 paper

NM_005957.5

p.A5A

c.15C>T