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.V235L

c.703G>T

Surrounding Variants

1 paper

NM_001276270.2

p.V235L

c.703G>C

1 paper

NM_001276270.2

p.V235M

c.703G>A

1 paper

NM_001276270.2

p.K234N

c.702G>C

1 paper

NM_001276270.2

p.R229K

c.686G>A

1 paper

NM_001276270.2

p.V228L

c.682G>C

1 paper

NM_001276270.2

p.K227R

c.680A>G

1 paper

NM_001276270.2

p.K244M

c.731A>T

1 paper

NM_001276270.2

p.N224S

c.671A>G

1 paper

NM_001276270.2

p.D221G

c.662A>G

1 paper

NM_001276270.2

p.K248fs

c.742_743fs

1 paper

NM_001276270.2

p.D221H

c.661G>C

1 paper

NM_001276270.2

p.K248delFs

c.744delT