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.A85T

c.253G>A

Surrounding Variants

1 paper

NM_005957.5

p.A85E

c.254C>A

3 papers

NM_005957.5

p.A84A

c.252A>G

1 paper

NM_005957.5

p.G86fs

c.256_257fs

2 papers

NM_005957.5

p.A84T

c.250G>A

1 paper

NM_005957.5

p.M83I

c.249G>T

1 paper

NM_005957.5

p.M83I

c.249G>C

1 paper

NM_005957.5

p.M83I

c.249G>A

1 paper

NM_005957.5

p.M83delFs

c.248delA

1 paper

NM_005957.5

p.M83R

c.248T>G

1 paper

NM_005957.5

p.G86delFs

c.257delC

1 paper

NM_005957.5

p.M83V

c.247A>G

2 papers

NM_005957.5

p.G87D

c.260G>A