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.L425R

c.1274T>G

Surrounding Variants

1 paper

NM_005957.5

p.L425V

c.1273C>G

1 paper

NM_005957.5

p.L418_L425del0

c.1252_1275del24

2 papers

NM_005957.5

p.E423D

c.1269G>T

1 paper

NM_005957.5

p.E423fs

c.1267_1268fs

2 papers

NM_005957.5

p.E423D

c.1269G>C

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

1 paper

NM_005957.5

p.E423delFs

c.1267delC

1 paper

NM_005957.5

p.E423K

c.1267G>A

1 paper

NM_005957.5

p.E423fs

c.1267_1268fs

8 papers

NM_005957.5

p.E428A

c.1283A>C