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.V619_N620insFs

c.1857_1858insC

Surrounding Variants

1 paper

NM_005957.5

p.L621P

c.1862T>C

1 paper

NM_005957.5

p.L618P

c.1853T>C

1 paper

NM_005957.5

p.V622V

c.1866G>A

1 paper

NM_005957.5

p.N615S

c.1844A>G

1 paper

NM_005957.5

p.D614G

c.1841A>G

1 paper

NM_005957.5

p.H613R

c.1838A>G

4 papers

NM_005957.5

p.L628P

c.1883T>C

1 paper

NM_005957.5

p.D629G

c.1886A>G

1 paper

NM_005957.5

p.C631fs

c.1891_1892fs

1 paper

NM_005957.5

p.N630_C631insFs

c.1888_1891dup4

2 papers

NM_005957.5

p.I608insFs

c.1822_1823ins5

1 paper

NM_005957.5

p.L632P

c.1895T>C