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.G54A

c.161G>C

Surrounding Variants

1 paper

NM_015846.4

p.L53Q

c.158T>A

1 paper

NM_015846.4

p.Y52*

c.156C>G

1 paper

NM_015846.4

p.Y52*

c.156C>A

1 paper

NM_015846.4

p.S45_T50del6

c.133_149del18

1 paper

NM_015846.4

p.R44*

c.130C>T

1 paper

NM_015846.4

p.V79M

c.235G>A

1 paper

NM_015846.4

p.A80A

c.240G>A

1 paper

NM_015846.4

p.K85_R86del1

c.255_257delCGC

1 paper

NM_015846.4

p.R96Q

c.287G>A

1 paper

NM_015846.4

p.E106A

c.317A>C

1 paper

NM_015846.4

p.A118V

c.353C>T

1 paper

NM_015846.4

p.D121V

c.362A>T