Varaico: Literature-Extracted Genetic Variants

MBD2

437 papers

RefSeq Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear prot...

Pfam Domains

MBDaa 146–216UCSCMethyl-CpG binding domain

MBDaaa 223–292UCSCp55-binding region of Methyl-CpG-binding domain proteins MBD

MBD_Caa 296–387UCSCC-terminal domain of methyl-CpG binding protein 2 and 3

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003927.5

p.D29E

c.87C>A

Surrounding Variants

1 paper

NM_003927.5

p.G25S

c.73G>A

1 paper

NM_003927.5

p.G23_S24delFs

c.68_71del4

1 paper

NM_003927.5

p.G35R

c.103G>C

2 papers

NM_003927.5

p.G35R

c.103G>A

1 paper

NM_003927.5

p.G23D

c.68G>A

1 paper

NM_003927.5

p.A21T

c.61G>A

1 paper

NM_003927.5

p.A20_A21ins1

c.60_61insAGC

1 paper

NM_003927.5

p.G38insFs

c.113dupG

1 paper

NM_003927.5

p.E18D

c.54G>T

1 paper

NM_003927.5

p.E18D

c.54G>C

1 paper

NM_003927.5

p.E18V

c.53A>T

1 paper

NM_003927.5

p.P43P

c.129G>A