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.G165D

c.494G>A

Surrounding Variants

1 paper

NM_002454.3

p.P168delFs

c.503delC

1 paper

NM_002454.3

p.S174fs

c.520_521fs

76 papers

NM_002454.3

p.S175L

c.524C>T

1 paper

NM_002454.3

p.F154L

c.460T>C

2 papers

NM_002454.3

p.H153Y

c.457C>T

4 papers

NM_002454.3

p.L179L

c.537T>C

1 paper

NM_002454.3

p.L150delins

c.448_449delinsCC

3 papers

NM_002454.3

p.W147*

c.440G>A

2 papers

NM_002454.3

p.W147S

c.440G>C

1 paper

NM_002454.3

p.L185_I187Fs

c.554_559delinsTGTGFs

1 paper

NM_002454.3

p.H186Y

c.556C>T

1 paper

NM_002454.3

p.A144S

c.430G>T