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.D223E

c.669T>G

Surrounding Variants

1 paper

NM_005957.5

p.D223E

c.669T>A

1 paper

NM_005957.5

p.D223G

c.668A>G

12 papers

NM_005957.5

p.D223N

c.667G>A

1 paper

NM_005957.5

p.A222A

c.666C>T

1 paper

NM_005957.5

p.A222A

c.666C>A

1011 papers

NM_005957.5

p.A222V

c.665C>T

NM_001330358.2

p.A263V

c.788C>T

2 papers

NM_005957.5

p.A222D

c.665C>A

1 paper

NM_005957.5

p.I225F

c.673A>T

4 papers

NM_005957.5

p.I225V

c.673A>G

5 papers

NM_005957.5

p.I225L

c.673A>C

2 papers

NM_005957.5

p.A222S

c.664G>T

1 paper

NM_005957.5

p.A222T

c.664G>A