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.L11insFs

c.31dupC

Surrounding Variants

4 papers

NM_005957.5

p.L11L

c.33C>T

2 papers

NM_005957.5

p.L11L

c.33C>A

1 paper

NM_005957.5

p.N12D

c.34A>G

1 paper

NM_005957.5

p.N12H

c.34A>C

1 paper

NM_005957.5

p.L11delFs

c.33delG

2 papers

NM_005957.5

p.S10N

c.29G>A

1 paper

NM_005957.5

p.N12S

c.35A>G

3 papers

NM_005957.5

p.S10C

c.28A>T

1 paper

NM_005957.5

p.S10G

c.28A>G

3 papers

NM_005957.5

p.S9S

c.27C>T

2 papers

NM_005957.5

p.P13S

c.37C>T

4 papers

NM_005957.5

p.P13R

c.38C>G