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.S330Y

c.989C>A

Surrounding Variants

2 papers

NM_001276270.2

p.K335fs

c.1003_1004fs

1 paper

NM_001276270.2

p.N334_K335delFs

c.1002_1005del4

1 paper

NM_001276270.2

p.K340R

c.1019A>G

1 paper

NM_001276270.2

p.K340delFs

c.1020delT

1 paper

NM_001276270.2

p.D341fs

c.1021_1022fs

6 papers

NM_001276270.2

p.S342P

c.1024T>C

1 paper

NM_001276270.2

p.E314_R315delFs

c.942_945del4

27 papers

NM_001276270.2

p.E346K

c.1036G>A

2 papers

NM_001276270.2

p.E314fs

c.940_941fs

7 papers

NM_001276270.2

p.K313_E314insFs

c.939_940insA

7 papers

NM_001276270.2

p.V310delFs

c.930delT

9 papers

NM_001276270.2

p.E314fs

c.940_941fs