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

2 papers

NM_005957.5

p.L135L

c.405G>C

Surrounding Variants

1 paper

NM_005957.5

p.L135L

c.405G>A

5 papers

NM_005957.5

p.R134L

c.401G>T

6 papers

NM_001330358.2

p.R175C

c.523C>T

NM_005957.5

p.R134C

c.400C>T

1 paper

NM_005957.5

p.R134S

c.400C>A

1 paper

NM_005957.5

p.R132H

c.395G>A

8 papers

NM_005957.5

p.T139M

c.416C>T

6 papers

NM_005957.5

p.R132C

c.394C>T

1 paper

NM_005957.5

p.R132G

c.394C>G

4 papers

NM_005957.5

p.C131*

c.393C>A

2 papers

NM_005957.5

p.G140R

c.418G>C

1 paper

NM_005957.5

p.C130C

c.390C>T

1 paper

NM_005957.5

p.G140G

c.420C>G