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

3 papers

NM_005957.5

p.I248V

c.742A>G

Surrounding Variants

1 paper

NM_005957.5

p.G247D

c.740G>A

1 paper

NM_005957.5

p.T249A

c.745A>G

1 paper

NM_005957.5

p.M246K

c.737T>A

1 paper

NM_005957.5

p.C250R

c.748T>C

1 paper

NM_005957.5

p.C250Y

c.749G>A

1 paper

NM_005957.5

p.C250W

c.750C>G

4 papers

NM_005957.5

p.P251L

c.752C>T

1 paper

NM_005957.5

p.T244T

c.732C>T

1 paper

NM_005957.5

p.T244I

c.731C>T

1 paper

NM_005957.5

p.C243_T244insFs

c.729_730insTT

2 papers

NM_005957.5

p.C243Y

c.728G>A

1 paper

NM_005957.5

p.C243G

c.727T>G