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.G17S

c.49G>A

Surrounding Variants

1 paper

NM_005957.5

p.G17A

c.50G>C

1 paper

NM_005957.5

p.E16Q

c.46G>C

1 paper

NM_005957.5

p.S18delFs

c.53delC

2 papers

NM_005957.5

p.L15L

c.43T>C

1 paper

NM_005957.5

p.A19G

c.56C>G

1 paper

NM_005957.5

p.C14fs

c.40_41fs

1 paper

NM_005957.5

p.C14insFs

c.40dupT

1 paper

NM_005957.5

p.S20C

c.58A>T

1 paper

NM_005957.5

p.P13P

c.39C>T

2 papers

NM_005957.5

p.S20S

c.60C>T

4 papers

NM_005957.5

p.P13R

c.38C>G

2 papers

NM_005957.5

p.P13S

c.37C>T