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.G569R

c.1705G>A

Surrounding Variants

1 paper

NM_002454.3

p.L576del1

c.1726_1727delTTG

1 paper

NM_002454.3

p.F577delFs

c.1729delT

1 paper

NM_002454.3

p.F577fs

c.1729_1730fs

1 paper

NM_002454.3

p.E560fs

c.1678_1679fs

2 papers

NM_002454.3

p.E560fs

c.1678_1679fs

1 paper

NM_002454.3

p.F578C

c.1733T>G

1 paper

NM_002454.3

p.R559Splc

c.1677-1G>A

3 papers

NM_002454.3

p.E560_K561delFs

c.1678_1681del4

1 paper

NM_002454.3

p.C580_D586del0

c.1740_1757del18

1 paper

NM_002454.3

p.C580W

c.1740C>G

1 paper

NM_002454.3

p.Y587Y

c.1761T>C

3 papers

NM_002454.3

p.R590Splc

c.1769+1G>A