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

5 papers

NM_005957.5

p.G422R

c.1264G>C

Surrounding Variants

5 papers

NM_005957.5

p.G422R

c.1264G>A

1 paper

NM_005957.5

p.W421C

c.1263G>T

1 paper

NM_005957.5

p.W421C

c.1263G>C

5 papers

NM_005957.5

p.W421*

c.1263G>A

2 papers

NM_005957.5

p.W421L

c.1262G>T

10 papers

NM_005957.5

p.W421S

c.1262G>C

5 papers

NM_005957.5

p.W421*

c.1262G>A

1 paper

NM_005957.5

p.E423K

c.1267G>A

1 paper

NM_005957.5

p.E423fs

c.1267_1268fs

1 paper

NM_005957.5

p.E423G

c.1268A>G

2 papers

NM_005957.5

p.E423A

c.1268A>C

2 papers

NM_005957.5

p.E423insFs

c.1267dupG