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

2 papers

NM_001276270.2

p.N131S

c.392A>G

Surrounding Variants

1 paper

NM_001276270.2

p.S135A

c.403T>G

1 paper

NM_001276270.2

p.S135Y

c.404C>A

1 paper

NM_001276270.2

p.K137R

c.410A>G

1 paper

NM_001276270.2

p.K137delFs

c.411delC

1 paper

NM_001276270.2

p.L124R

c.371T>G

2 papers

NM_001276270.2

p.L124F

c.370C>T

2 papers

NM_001276270.2

p.S123L

c.368C>T

1 paper

NM_001276270.2

p.D140fs

c.418_419fs

1 paper

NM_001276270.2

p.D142G

c.425A>G

1 paper

NM_001276270.2

p.T144N

c.431C>A

1 paper

NM_001276270.2

p.S147T

c.439T>A

1 paper

NM_001276270.2

p.G150S

c.448G>A