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.D34A

c.101A>C

Surrounding Variants

1 paper

NM_002454.3

p.D34N

c.100G>A

1 paper

NM_002454.3

p.D34D

c.102T>C

1 paper

NM_002454.3

p.H36Y

c.106C>T

1 paper

NM_002454.3

p.C37Y

c.110G>A

3 papers

NM_002454.3

p.H29Y

c.85C>T

1 paper

NM_002454.3

p.E40D

c.120A>T

3 papers

NM_002454.3

p.S41S

c.123C>T

1 paper

NM_002454.3

p.D42G

c.125A>G

1 paper

NM_002454.3

p.K43N

c.129G>C

1 paper

NM_002454.3

p.K43N

c.129G>T

5 papers

NM_002454.3

p.I22I

c.66A>C

807 papers

NM_002454.3

p.I22M

c.66A>G