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

2 papers

NM_015846.4

p.R593Splc

c.1779-27C>T

Surrounding Variants

1 paper

NM_015846.4

p.K599fs

c.1795_1796fs

1 paper

NM_015846.4

p.F584F

c.1752C>T

1 paper

NM_015846.4

p.L579R

c.1736T>G

1 paper

NM_015846.4

p.G569V

c.1706G>T

1 paper

NM_015846.4

p.K558N

c.1674A>T

1 paper

NM_015846.4

p.K558N

c.1674A>C

1 paper

NM_015846.4

p.E546*

c.1636G>T

1 paper

NM_015846.4

p.D531H

c.1591G>C

1 paper

NM_015846.4

p.K528_A529Splc

c.1585-12T>C

1 paper

NM_015846.4

p.T510fs

c.1528_1529fs

1 paper

NM_015846.4

p.P470P

c.1410G>A

1 paper

NM_015846.4

p.L459delFs

c.1376delA