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

6 papers

NM_005957.5

p.K372E

c.1114A>G

Surrounding Variants

1 paper

NM_005957.5

p.K372Q

c.1114A>C

2 papers

NM_005957.5

p.K372delFs

c.1115delT

4 papers

NM_005957.5

p.Y374*

c.1122C>G

3 papers

NM_005957.5

p.Y374*

c.1122C>A

1 paper

NM_005957.5

p.I375I

c.1125C>T

2 papers

NM_005957.5

p.A368G

c.1103C>G

2 papers

NM_005957.5

p.A368D

c.1103C>A

1 paper

NM_005957.5

p.A368S

c.1102G>T

1 paper

NM_005957.5

p.W367C

c.1101G>T

1 paper

NM_005957.5

p.V362_W367delFs

c.1085_1100del16

1 paper

NM_005957.5

p.Y376C

c.1127A>G

1 paper

NM_005957.5

p.W367*

c.1100G>A