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.L466V

c.1396C>G

Surrounding Variants

1 paper

NM_005957.5

p.L466P

c.1397T>C

1 paper

NM_005957.5

p.T464I

c.1391C>T

1 paper

NM_005957.5

p.L460_L467del8

c.1378_1400del24

3 papers

NM_005957.5

p.E463D

c.1389G>T

3 papers

NM_005957.5

p.E463D

c.1389G>C

4 papers

NM_005957.5

p.E463Q

c.1387G>C

1 paper

NM_005957.5

p.E469K

c.1405G>A

1 paper

NM_005957.5

p.E469A

c.1406A>C

1 paper

NM_005957.5

p.E469delFs

c.1405delC

14 papers

NM_005957.5

p.E470*

c.1408G>T

NM_001330358.2

p.E511*

c.1531G>T

3 papers

NM_005957.5

p.E470Q

c.1408G>C

4 papers

NM_005957.5

p.E470V

c.1409A>T