Varaico: Literature-Extracted Genetic Variants

MBD1

119 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 1–72UCSCMethyl-CpG binding domain

zf-CXXCaa 168–215UCSCCXXC zinc finger domain

zf-CXXCaa 217–262UCSCCXXC zinc finger domain

zf-CXXCaa 330–377UCSCCXXC zinc finger domain

Gene Aliases

HGNC Name

methyl-CpG binding domain protein 1

HGNC Alias Symbol

CXXC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015846.4

p.G177G

c.531G>A

Surrounding Variants

1 paper

NM_015846.4

p.C176fs

c.526_527fs

1 paper

NM_015846.4

p.C176_E178delFs

c.527_533del7

1 paper

NM_015846.4

p.S204L

c.611C>T

1 paper

NM_015846.4

p.V219G

c.656T>G

1 paper

NM_015846.4

p.C225fs

c.673_674fs

1 paper

NM_015846.4

p.C225_V227delFs

c.674_680del7

1 paper

NM_015846.4

p.E235V

c.704A>T

1 paper

NM_015846.4

p.W255_C257del3

c.763_770del9

1 paper

NM_015846.4

p.R169G

c.505A>G

1 paper

NM_015846.4

p.R166W

c.496C>T

1 paper

NM_015846.4

p.R158*

c.472C>T

1 paper

NM_015846.4

p.D156E

c.468C>G