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.I91delFs

c.271delT

Surrounding Variants

6 papers

NM_005957.5

p.I91insFs

c.271dupA

1 paper

NM_005957.5

p.V93L

c.277G>T

1 paper

NM_005957.5

p.V93L

c.277G>C

2 papers

NM_005957.5

p.V93M

c.277G>A

1 paper

NM_005957.5

p.L89L

c.267C>A

1 paper

NM_005957.5

p.V93G

c.278T>G

1 paper

NM_005957.5

p.L89H

c.266T>A

1 paper

NM_005957.5

p.T94T

c.282C>T

1 paper

NM_005957.5

p.P88S

c.262C>T

1 paper

NM_005957.5

p.P88A

c.262C>G

1 paper

NM_005957.5

p.W95R

c.283T>C

1 paper

NM_005957.5

p.W95fs

c.283_284fs