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

6 papers

NM_001276270.2

p.S342P

c.1024T>C

Surrounding Variants

1 paper

NM_001276270.2

p.K340delFs

c.1020delT

1 paper

NM_001276270.2

p.D341fs

c.1021_1022fs

1 paper

NM_001276270.2

p.K340R

c.1019A>G

27 papers

NM_001276270.2

p.E346K

c.1036G>A

1 paper

NM_001276270.2

p.N334_K335delFs

c.1002_1005del4

2 papers

NM_001276270.2

p.K335fs

c.1003_1004fs

1 paper

NM_001276270.2

p.L353*

c.1058T>G

1 paper

NM_001276270.2

p.L353*

c.1058T>A

1 paper

NM_001276270.2

p.S330Y

c.989C>A

1 paper

NM_001276270.2

p.L353delFs

c.1058delA

7 papers

NM_001276270.2

p.I358T

c.1073T>C

1 paper

NM_001276270.2

p.E363Q

c.1087G>C