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.E42V

c.125A>T

Surrounding Variants

1 paper

NM_001276270.2

p.E42D

c.126A>T

1 paper

NM_001276270.2

p.E42D

c.126A>C

1 paper

NM_001276270.2

p.R45S

c.135A>T

1 paper

NM_001276270.2

p.G47R

c.139G>C

1 paper

NM_001276270.2

p.G47R

c.139G>A

2 papers

NM_001276270.2

p.M53K

c.158T>A

5 papers

NM_001276270.2

p.C61R

c.181T>C

1 paper

NM_001276270.2

p.E67*

c.199G>T

1 paper

NM_001276270.2

p.E67G

c.200A>G

4 papers

NM_001276270.2

p.Q73*

c.217C>T

1 paper

NM_001276270.2

p.F74L

c.220T>C

1 paper

NM_001276270.2

p.F74L

c.222T>G