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.S380C

c.1139C>G

Surrounding Variants

1 paper

NM_001276270.2

p.R378C

c.1132C>T

1 paper

NM_001276270.2

p.K377R

c.1130A>G

1 paper

NM_001276270.2

p.P388S

c.1162C>T

1 paper

NM_001276270.2

p.P388R

c.1163C>G

1 paper

NM_001276270.2

p.E363Q

c.1087G>C

7 papers

NM_001276270.2

p.I358T

c.1073T>C

1 paper

NM_001276270.2

p.L353delFs

c.1058delA

1 paper

NM_001276270.2

p.L353*

c.1058T>G

1 paper

NM_001276270.2

p.L353*

c.1058T>A

27 papers

NM_001276270.2

p.E346K

c.1036G>A

6 papers

NM_001276270.2

p.S342P

c.1024T>C

1 paper

NM_001276270.2

p.K340delFs

c.1020delT