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.E123K

c.367G>A

Surrounding Variants

1 paper

NM_005957.5

p.L122L

c.366G>A

4 papers

NM_005957.5

p.E123G

c.368A>G

1 paper

NM_005957.5

p.E123D

c.369G>T

1 paper

NM_005957.5

p.E123D

c.369G>C

1 paper

NM_005957.5

p.L122L

c.364C>T

1 paper

NM_005957.5

p.T124S

c.370A>T

1 paper

NM_005957.5

p.G121V

c.362G>T

1 paper

NM_005957.5

p.G121A

c.362G>C

1 paper

NM_005957.5

p.C120W

c.360T>G

1 paper

NM_005957.5

p.C120*

c.360T>A

3 papers

NM_005957.5

p.C120Y

c.359G>A

7 papers

NM_005957.5

p.H127Y

c.379C>T