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

4 papers

NM_002454.3

p.V54del1

c.160_161delGTT

Surrounding Variants

1 paper

NM_002454.3

p.L53R

c.158T>G

1 paper

NM_002454.3

p.P52H

c.155C>A

1 paper

NM_002454.3

p.T50I

c.149C>T

8 papers

NM_002454.3

p.V56M

c.166G>A

13 papers

NM_002454.3

p.E49E

c.147A>G

1 paper

NM_002454.3

p.V57I

c.169G>A

1 paper

NM_002454.3

p.T59P

c.175A>C

1 paper

NM_002454.3

p.T59S

c.175A>T

1 paper

NM_002454.3

p.T60P

c.178A>C

1 paper

NM_002454.3

p.L46L

c.136C>T

1 paper

NM_002454.3

p.K43_Y44Splc

c.130-1G>T

1 paper

NM_002454.3

p.G63R

c.187G>A