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.G92G

c.276G>A

Surrounding Variants

1 paper

NM_002454.3

p.G92G

c.276G>T

1 paper

NM_002454.3

p.R90_Y91insFs

c.270_271insA

2 papers

NM_002454.3

p.R90W

c.268C>T

1 paper

NM_002454.3

p.A87A

c.261T>A

1 paper

NM_002454.3

p.A87V

c.260C>T

2 papers

NM_002454.3

p.P82L

c.245C>T

1 paper

NM_002454.3

p.N78del1

c.232_234delAAC

1 paper

NM_002454.3

p.Q77K

c.229C>A

1 paper

NM_002454.3

p.V73F

c.217G>T

1 paper

NM_002454.3

p.A69A

c.207C>G

1 paper

NM_002454.3

p.P66P

c.198C>T

1 paper

NM_002454.3

p.P65_P66insATT

c.193_197ins9