Varaico: Literature-Extracted Genetic Variants

MBD4

189 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methyla...

Pfam Domains

MBDaa 76–151UCSCMethyl-CpG binding domain

Gene Aliases

HGNC Name

methyl-CpG binding domain 4, DNA glycosylase

HGNC Previous Name

methyl-CpG binding domain protein 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001276270.2

p.K311T

c.932A>C

Surrounding Variants

2 papers

NM_001276270.2

p.V310fs

c.928_929fs

1 paper

NM_001276270.2

p.K313fs

c.937_938fs

7 papers

NM_001276270.2

p.K313_E314insFs

c.939_940insA

7 papers

NM_001276270.2

p.V310delFs

c.930delT

9 papers

NM_001276270.2

p.E314fs

c.940_941fs

1 paper

NM_001276270.2

p.S308N

c.923G>A

2 papers

NM_001276270.2

p.E314fs

c.940_941fs

1 paper

NM_001276270.2

p.E314_R315delFs

c.942_945del4

1 paper

NM_001276270.2

p.E305E

c.915A>G

1 paper

NM_001276270.2

p.T299I

c.896C>T

1 paper

NM_001276270.2

p.E298K

c.892G>A

1 paper

NM_001276270.2

p.S330Y

c.989C>A