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

2 papers

NM_005957.5

p.A655_*657del3

c.1963_1970del9

Surrounding Variants

9 papers

NM_005957.5

p.*657S

c.1970G>C

4 papers

NM_005957.5

p.*657R

c.1969T>C

3 papers

NM_005957.5

p.*657R

c.1969T>A

12 papers

NM_005957.5

p.T653M

c.1958C>T

1 paper

NM_005957.5

p.A650E

c.1949C>A

1 paper

NM_005957.5

p.N649D

c.1945A>G

1 paper

NM_005957.5

p.Q648P

c.1943A>C

1 paper

NM_005957.5

p.R645K

c.1934G>A

1 paper

NM_005957.5

p.N644K

c.1932C>G

1 paper

NM_005957.5

p.N644K

c.1932C>A

1 paper

NM_005957.5

p.E641A

c.1922A>C

1 paper

NM_005957.5

p.L640S

c.1919T>C