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

2 papers

NM_005957.5

p.R157G

c.469C>G

Surrounding Variants

2 papers

NM_005957.5

p.R157W

c.469C>T

1 paper

NM_005957.5

p.R157L

c.470G>T

17 papers

NM_005957.5

p.R157Q

c.470G>A

1 paper

NM_005957.5

p.M154_L156delFs

c.460_467del8

2 papers

NM_005957.5

p.L156P

c.467T>C

1 paper

NM_005957.5

p.R157R

c.471G>A

1 paper

NM_005957.5

p.G158R

c.472G>A

1 paper

NM_005957.5

p.G158A

c.473G>C

1 paper

NM_005957.5

p.G158E

c.473G>A

1 paper

NM_005957.5

p.A155E

c.464C>A

5 papers

NM_005957.5

p.G158G

c.474A>T

1 paper

NM_005957.5

p.D159Splc

c.475+1G>A