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

8 papers

NM_005957.5

p.H354Y

c.1060C>T

Surrounding Variants

1 paper

NM_005957.5

p.H354R

c.1061A>G

1 paper

NM_005957.5

p.A353G

c.1058C>G

5 papers

NM_005957.5

p.S352S

c.1056C>T

1 paper

NM_005957.5

p.K356*

c.1066A>T

1 paper

NM_005957.5

p.K356E

c.1066A>G

1 paper

NM_005957.5

p.K356R

c.1067A>G

10 papers

NM_005957.5

p.R357C

c.1069C>T

1 paper

NM_005957.5

p.A350A

c.1050T>A

1 paper

NM_005957.5

p.R357L

c.1070G>T

13 papers

NM_005957.5

p.R357H

c.1070G>A

8 papers

NM_005957.5

p.R358*

c.1072C>T

1 paper

NM_005957.5

p.R358Q

c.1073G>A