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.F207L

c.621T>G

Surrounding Variants

1 paper

NM_001276270.2

p.F207L

c.621T>A

1 paper

NM_001276270.2

p.F207insFs

c.620_621insT

1 paper

NM_001276270.2

p.F207L

c.619T>C

1 paper

NM_001276270.2

p.S209Y

c.626C>A

3 papers

NM_001276270.2

p.L204_S205delFs

c.612_615del4

2 papers

NM_001276270.2

p.S205fs

c.613_614fs

1 paper

NM_001276270.2

p.H211Y

c.631C>T

1 paper

NM_001276270.2

p.K215R

c.644A>G

1 paper

NM_001276270.2

p.E216K

c.646G>A

1 paper

NM_001276270.2

p.E218K

c.652G>A

2 papers

NM_001276270.2

p.G219V

c.656G>T

1 paper

NM_001276270.2

p.D221H

c.661G>C