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.K27E

c.79A>G

Surrounding Variants

3 papers

NM_005957.5

p.K27Q

c.79A>C

5 papers

NM_005957.5

p.K27R

c.80A>G

5 papers

NM_005957.5

p.S26F

c.77C>T

1 paper

NM_005957.5

p.S26A

c.76T>G

1 paper

NM_005957.5

p.D28H

c.82G>C

1 paper

NM_005957.5

p.D28N

c.82G>A

1 paper

NM_005957.5

p.D28_S29insFs

c.84_85insG

1 paper

NM_005957.5

p.S25N

c.74G>A

1 paper

NM_005957.5

p.S25G

c.73A>G

1 paper

NM_005957.5

p.S29T

c.86G>C

1 paper

NM_005957.5

p.E24D

c.72G>C

1 paper

NM_005957.5

p.S29S

c.87T>C