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.K352K

c.1056A>G

Surrounding Variants

1 paper

NM_002454.3

p.K352N

c.1056A>C

1 paper

NM_002454.3

p.K352N

c.1056A>T

32 papers

NM_002454.3

p.K350R

c.1049A>G

1 paper

NM_002454.3

p.K344_A347del4

c.1030_1040del12

2 papers

NM_002454.3

p.V341I

c.1021G>A

1 paper

NM_002454.3

p.C340F

c.1019G>T

1 paper

NM_002454.3

p.D335N

c.1003G>A

8 papers

NM_002454.3

p.L333V

c.997C>G

1 paper

NM_002454.3

p.L333F

c.997C>T

1 paper

NM_002454.3

p.S326G

c.976A>G

1 paper

NM_002454.3

p.S326C

c.976A>T

1 paper

NM_002454.3

p.S306S

c.918C>T