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.K16*

c.46A>T

Surrounding Variants

1 paper

NM_002454.3

p.K16insFs

c.47_48insA

1 paper

NM_002454.3

p.A15_E20del6

c.43_59del18

1 paper

NM_002454.3

p.I18I

c.54C>T

1 paper

NM_002454.3

p.A19T

c.55G>A

2 papers

NM_002454.3

p.E20E

c.60A>G

1 paper

NM_002454.3

p.T10delFs

c.30delA

1 paper

NM_002454.3

p.I22ins1

c.65_66insATT

4 papers

NM_002454.3

p.I22V

c.64A>G

5 papers

NM_002454.3

p.I22I

c.66A>C

807 papers

NM_002454.3

p.I22M

c.66A>G

1 paper

NM_002454.3

p.A9T

c.25G>A

1 paper

NM_002454.3

p.Y8C

c.23A>G