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

1–12 of 199 variants

27 papers

NM_001276270.2

p.E346K

c.1036G>A

9 papers

NM_001276270.2

p.A273T

c.817G>A

9 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

7 papers

NM_001276270.2

p.I358T

c.1073T>C

6 papers

NM_001276270.2

p.E91D

c.273A>T

6 papers

NM_001276270.2

p.S342P

c.1024T>C

5 papers

NM_001276270.2

p.C61R

c.181T>C

5 papers

NM_001276270.2

p.S112Splc

c.335+1G>A

4 papers

NM_001276270.2

p.Q73*

c.217C>T

4 papers

NM_001276270.2

p.R83fs

c.247_248fs