Varaico: Literature-Extracted Genetic Variants

MTRR

1,161 papers

RefSeq Summary

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a fun...

Pfam Domains

Flavodoxin_1aa 6–142UCSCFlavodoxin

FAD_binding_1aa 267–492UCSCFAD binding domain

NAD_binding_1aa 542–662UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

HGNC Alias Symbol

cblE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002454.3

p.E256*

c.766G>T

Surrounding Variants

1 paper

NM_002454.3

p.Q255H

c.765G>C

11 papers

NM_002454.3

p.S257T

c.769T>A

1 paper

NM_002454.3

p.G259S

c.775G>A

1 paper

NM_002454.3

p.G259A

c.776G>C

1 paper

NM_002454.3

p.V252L

c.754G>C

1 paper

NM_002454.3

p.V252L

c.754G>T

1 paper

NM_002454.3

p.Q251L

c.752A>T

2 papers

NM_002454.3

p.E248K

c.742G>A

1 paper

NM_002454.3

p.P246T

c.736C>A

1 paper

NM_002454.3

p.G244insFs

c.730_731insT

1 paper

NM_002454.3

p.S236S

c.708A>G

1 paper

NM_002454.3

p.P233P

c.699C>G