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.V220del1

c.658_660delGTA

Surrounding Variants

1 paper

NM_002454.3

p.N218K

c.654T>A

1 paper

NM_002454.3

p.N218K

c.654T>G

1 paper

NM_002454.3

p.E222*

c.664G>T

1 paper

NM_002454.3

p.S214N

c.641G>A

59 papers

NM_002454.3

p.S226F

c.677C>T

1 paper

NM_002454.3

p.V212V

c.636G>A

1 paper

NM_002454.3

p.S227L

c.680C>T

2 papers

NM_002454.3

p.V212L

c.634G>C

1 paper

NM_002454.3

p.V232_P234del3

c.694_701del9

1 paper

NM_002454.3

p.V206V

c.618T>C

1 paper

NM_002454.3

p.P233P

c.699C>G

3 papers

NM_002454.3

p.P233P

c.699C>T