Varaico: Literature-Extracted Genetic Variants

MBD3

74 papers

RefSeq Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the p...

Pfam Domains

MBDaa 1–72UCSCMethyl-CpG binding domain

MBDaaa 79–148UCSCp55-binding region of Methyl-CpG-binding domain proteins MBD

MBD_Caa 152–243UCSCC-terminal domain of methyl-CpG binding protein 2 and 3

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001281453.2

p.D94delFs

c.281delT

Surrounding Variants

1 paper

NM_001281453.2

p.V101fs

c.301_302fs

1 paper

NM_001281453.2

p.R135H

c.404G>A

1 paper

NM_001281453.2

p.R82L

c.245G>T

1 paper

NM_001281453.2

p.V81G

c.242T>G

1 paper

NM_001281453.2

p.L53Q

c.158T>A

1 paper

NM_001281453.2

p.L49R

c.146T>G

1 paper

NM_001281453.2

p.S144S

c.432C>T

1 paper

NM_001281453.2

p.D150Y

c.448G>T

2 papers

NM_001281453.2

p.V156I

c.466G>A

1 paper

NM_001281453.2

p.T158A

c.472A>G

1 paper

NM_001281453.2

p.S179L

c.536C>T

1 paper

NM_001281453.2

p.A182S

c.544G>T