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

2 papers

NM_002454.3

p.V625V

c.1875G>A

Surrounding Variants

1 paper

NM_002454.3

p.D627G

c.1880A>G

1 paper

NM_002454.3

p.I629L

c.1885A>C

1 paper

NM_002454.3

p.A622E

c.1865C>A

1 paper

NM_002454.3

p.G616R

c.1846G>A

1 paper

NM_002454.3

p.P614A

c.1840C>G

2 papers

NM_002454.3

p.A637V

c.1910C>T

3 papers

NM_002454.3

p.A637A

c.1911G>A

1 paper

NM_002454.3

p.V607I

c.1819G>A

1 paper

NM_002454.3

p.G645G

c.1935C>T

2 papers

NM_002454.3

p.H595P

c.1784A>C

27 papers

NM_002454.3

p.H595Y

c.1783C>T

1 paper

NM_002454.3

p.R594K

c.1781G>A