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.S165C

c.494C>G

Surrounding Variants

1 paper

NM_001276270.2

p.T164T

c.492A>T

1 paper

NM_001276270.2

p.Q168*

c.502C>T

1 paper

NM_001276270.2

p.N169S

c.506A>G

1 paper

NM_001276270.2

p.S153*

c.458C>G

1 paper

NM_001276270.2

p.S153*

c.458C>A

1 paper

NM_001276270.2

p.I151M

c.453C>G

1 paper

NM_001276270.2

p.T180delFs

c.538delT

1 paper

NM_001276270.2

p.G150S

c.448G>A

3 papers

NM_001276270.2

p.R181*

c.541C>T

1 paper

NM_001276270.2

p.S147T

c.439T>A

1 paper

NM_001276270.2

p.T144N

c.431C>A

1 paper

NM_001276270.2

p.K186T

c.557A>C