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

19 papers

NM_002454.3

p.R415C

c.1243C>T

Surrounding Variants

1 paper

NM_002454.3

p.R415R

c.1245C>G

1 paper

NM_002454.3

p.R418Q

c.1253G>A

1 paper

NM_002454.3

p.D419G

c.1256A>G

2 papers

NM_002454.3

p.A410P

c.1228G>C

1 paper

NM_002454.3

p.A422V

c.1265C>T

1 paper

NM_002454.3

p.S406G

c.1216A>G

1 paper

NM_002454.3

p.C405R

c.1213T>C

1 paper

NM_002454.3

p.L429F

c.1285C>T

1 paper

NM_002454.3

p.F431F

c.1293C>T

1 paper

NM_002454.3

p.S433Y

c.1298C>A

1 paper

NM_002454.3

p.D394E

c.1182C>A

1 paper

NM_002454.3

p.D394E

c.1182C>G