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.L476V

c.1426C>G

Surrounding Variants

5 papers

NM_002454.3

p.S477C

c.1430C>G

1 paper

NM_002454.3

p.E474*

c.1420G>T

1 paper

NM_002454.3

p.A479V

c.1436C>T

1 paper

NM_002454.3

p.T480A

c.1438A>G

1 paper

NM_002454.3

p.V469V

c.1407C>T

1 paper

NM_002454.3

p.V469delFs

c.1405delG

7 papers

NM_002454.3

p.G487R

c.1459G>A

4 papers

NM_002454.3

p.G487R

c.1459G>C

1 paper

NM_002454.3

p.V488V

c.1464A>G

1 paper

NM_002454.3

p.T490A

c.1468A>G

1 paper

NM_002454.3

p.T490insFs

c.1470dupA

1 paper

NM_002454.3

p.G491fs

c.1471_1472fs