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

1 paper

NM_001281453.2

p.L248M

c.742C>A

Surrounding Variants

1 paper

NM_001281453.2

p.H250Q

c.750C>A

1 paper

NM_001281453.2

p.A245S

c.733G>T

1 paper

NM_001281453.2

p.A242V

c.725C>T

1 paper

NM_001281453.2

p.E272K

c.814G>A

1 paper

NM_001281453.2

p.E277*

c.829G>T

1 paper

NM_001281453.2

p.E281ins0

c.841_843dupGAG

3 papers

NM_001281453.2

p.E281del1

c.841_842delCTC

1 paper

NM_001281453.2

p.D283N

c.847G>A

1 paper

NM_001281453.2

p.E223E

c.669G>A

1 paper

NM_001281453.2

p.T210I

c.629C>T

1 paper

NM_001281453.2

p.W207L

c.620G>T

1 paper

NM_001281453.2

p.W207insFs

c.620_621insT