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.H141Y

c.421C>T

Surrounding Variants

2 papers

NM_005957.5

p.H141N

c.421C>A

1 paper

NM_005957.5

p.G140G

c.420C>G

2 papers

NM_005957.5

p.G140R

c.418G>C

1 paper

NM_005957.5

p.T139_H141ins1

c.415_423dup9

8 papers

NM_005957.5

p.T139M

c.416C>T

1 paper

NM_005957.5

p.H143Y

c.427C>T

1 paper

NM_005957.5

p.G140_L142delFs

c.418_425del8

1 paper

NM_005957.5

p.A145V

c.434C>T

2 papers

NM_005957.5

p.L135L

c.405G>C

1 paper

NM_005957.5

p.L135L

c.405G>A

1 paper

NM_005957.5

p.K146K

c.438G>A

1 paper

NM_005957.5

p.Q147*

c.439C>T