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

6 papers

NM_005957.5

p.K105E

c.313A>G

Surrounding Variants

1 paper

NM_005957.5

p.K105R

c.314A>G

1 paper

NM_005957.5

p.K105_E106insFs

c.315_316insC

1 paper

NM_005957.5

p.K105insFs

c.314dupA

4 papers

NM_005957.5

p.D92_K105ins4

c.276_314dup39

1 paper

NM_005957.5

p.D104N

c.310G>A

1 paper

NM_005957.5

p.S103T

c.307T>A

1 paper

NM_005957.5

p.P101insFs

c.302dupC

2 papers

NM_005957.5

p.P88_P101ins4

c.264_302dup39

2 papers

NM_005957.5

p.S108F

c.323C>T

1 paper

NM_005957.5

p.S108insFs

c.323_324ins10

1 paper

NM_005957.5

p.D100N

c.298G>A

1 paper

NM_005957.5

p.M110T

c.329T>C