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

7 papers

NM_005957.5

p.D234N

c.700G>A

Surrounding Variants

1 paper

NM_005957.5

p.A233_D234delins

c.697_700delinsTAAC

1 paper

NM_005957.5

p.D234D

c.702C>T

1 paper

NM_005957.5

p.A233V

c.698C>T

7 papers

NM_005957.5

p.A233G

c.698C>G

1 paper

NM_005957.5

p.A233D

c.698C>A

1 paper

NM_005957.5

p.T235A

c.703A>G

1 paper

NM_005957.5

p.T235I

c.704C>T

1 paper

NM_005957.5

p.F236L

c.706T>C

1 paper

NM_005957.5

p.F230delFs

c.689_690delGA

1 paper

NM_005957.5

p.F236L

c.708C>G

1 paper

NM_005957.5

p.F236L

c.708C>A

1 paper

NM_005957.5

p.F231V

c.691T>G