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.R238R

c.714C>A

Surrounding Variants

1 paper

NM_005957.5

p.F239L

c.715T>C

1 paper

NM_005957.5

p.R238L

c.713G>T

3 papers

NM_005957.5

p.R238H

c.713G>A

1 paper

NM_005957.5

p.F239C

c.716T>G

2 papers

NM_005957.5

p.R238C

c.712C>T

1 paper

NM_005957.5

p.F239L

c.717T>G

1 paper

NM_005957.5

p.F239L

c.717T>A

1 paper

NM_005957.5

p.F237L

c.711C>G

1 paper

NM_005957.5

p.F237L

c.711C>A

1 paper

NM_005957.5

p.V240M

c.718G>A

1 paper

NM_005957.5

p.F237L

c.709T>C

1 paper

NM_005957.5

p.V240E

c.719T>A