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

5 papers

NM_002454.3

p.L298F

c.894G>T

Surrounding Variants

1 paper

NM_002454.3

p.L298F

c.894G>C

2 papers

NM_002454.3

p.I290T

c.869T>C

1 paper

NM_002454.3

p.N287N

c.861T>C

1 paper

NM_002454.3

p.T286M

c.857C>T

10 papers

NM_002454.3

p.I278T

c.833T>C

1 paper

NM_002454.3

p.P277S

c.829C>T

1 paper

NM_002454.3

p.V276E

c.827T>A

1 paper

NM_002454.3

p.V273V

c.819T>C

1 paper

NM_002454.3

p.A270_D271insA

c.808_812ins3

1 paper

NM_002454.3

p.S269L

c.806C>T

1 paper

NM_002454.3

p.V265G

c.794T>G

1 paper

NM_002454.3

p.S301_N302Splc

c.903+409T>C