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

4 papers

NM_001276270.2

p.R83fs

c.247_248fs

Surrounding Variants

1 paper

NM_001276270.2

p.C82*

c.246C>A

1 paper

NM_001276270.2

p.K84Q

c.250A>C

1 paper

NM_001276270.2

p.C88R

c.262T>C

1 paper

NM_001276270.2

p.G75A

c.224G>C

1 paper

NM_001276270.2

p.F74L

c.222T>G

1 paper

NM_001276270.2

p.F74L

c.222T>A

6 papers

NM_001276270.2

p.E91D

c.273A>T

1 paper

NM_001276270.2

p.F74L

c.220T>C

1 paper

NM_001276270.2

p.R92T

c.275G>C

4 papers

NM_001276270.2

p.Q73*

c.217C>T

1 paper

NM_001276270.2

p.R97G

c.289A>G

1 paper

NM_001276270.2

p.E67G

c.200A>G