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.R6I

c.17G>T

Surrounding Variants

1 paper

NM_005957.5

p.R6T

c.17G>C

1 paper

NM_005957.5

p.R6K

c.17G>A

4 papers

NM_005957.5

p.R6*

c.16A>T

1 paper

NM_005957.5

p.R6G

c.16A>G

1 paper

NM_005957.5

p.R6S

c.18A>C

1 paper

NM_005957.5

p.G7insFs

c.19_20insC

1 paper

NM_005957.5

p.A5A

c.15C>T

1 paper

NM_005957.5

p.A5V

c.14C>T

1 paper

NM_005957.5

p.G7G

c.21A>T

1 paper

NM_005957.5

p.G7G

c.21A>C

2 papers

NM_005957.5

p.G7delFs

c.20delC

2 papers

NM_005957.5

p.E4D

c.12A>T