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.L598R

c.1793T>G

Surrounding Variants

7 papers

NM_005957.5

p.L598P

c.1793T>C

1 paper

NM_005957.5

p.Y599*

c.1797T>G

1 paper

NM_005957.5

p.Y599*

c.1797T>A

2 papers

NM_005957.5

p.E600K

c.1798G>A

1 paper

NM_005957.5

p.Y599_E600delins

c.1797_1798delinsGT

1 paper

NM_005957.5

p.E600Fs

c.1798delinsGTFs

1 paper

NM_005957.5

p.E601*

c.1801G>T

1 paper

NM_005957.5

p.W595S

c.1784G>C

63 papers

NM_005957.5

p.R594Q

c.1781G>A

4 papers

NM_005957.5

p.R594delFs

c.1780delG

1 paper

NM_005957.5

p.R594W

c.1780C>T

1 paper

NM_005957.5

p.S603F

c.1808C>T