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.S55F

c.164C>T

Surrounding Variants

1 paper

NM_005957.5

p.S55S

c.165T>G

2 papers

NM_005957.5

p.S55T

c.163T>A

1 paper

NM_005957.5

p.S55delFs

c.165delA

1 paper

NM_005957.5

p.E54D

c.162A>T

6 papers

NM_005957.5

p.G56D

c.167G>A

1 paper

NM_005957.5

p.E54*

c.160G>T

1 paper

NM_005957.5

p.E54K

c.160G>A

2 papers

NM_005957.5

p.D57N

c.169G>A

1 paper

NM_005957.5

p.L53L

c.159G>A

1 paper

NM_005957.5

p.L53W

c.158T>G

1 paper

NM_005957.5

p.D57V

c.170A>T

1 paper

NM_005957.5

p.L53M

c.157T>A