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

3 papers

NM_005957.5

p.P198T

c.592C>A

Surrounding Variants

1 paper

NM_005957.5

p.Y197*

c.591C>G

1 paper

NM_005957.5

p.Y197*

c.591C>A

1 paper

NM_005957.5

p.P198P

c.594C>T

2 papers

NM_005957.5

p.Y197D

c.589T>G

1 paper

NM_005957.5

p.G196G

c.588T>C

1 paper

NM_005957.5

p.K199R

c.596A>G

5 papers

NM_005957.5

p.G196D

c.587G>A

1 paper

NM_005957.5

p.G200C

c.598G>T

2 papers

NM_005957.5

p.G196S

c.586G>A

3 papers

NM_005957.5

p.G200D

c.599G>A

2 papers

NM_005957.5

p.H201Y

c.601C>T

1 paper

NM_005957.5

p.H201D

c.601C>G