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

6 papers

NM_015846.4

p.R269C

c.805C>T

Surrounding Variants

1 paper

NM_015846.4

p.A268V

c.803C>T

1 paper

NM_015846.4

p.R270H

c.809G>A

1 paper

NM_015846.4

p.K266delFs

c.798delT

1 paper

NM_015846.4

p.K266fs

c.796_797fs

2 papers

NM_015846.4

p.G273S

c.817G>A

1 paper

NM_015846.4

p.D275N

c.823G>A

1 paper

NM_015846.4

p.D275E

c.825C>G

1 paper

NM_015846.4

p.D275E

c.825C>A

1 paper

NM_015846.4

p.R282Q

c.845G>A

1 paper

NM_015846.4

p.P288S

c.862C>T

1 paper

NM_015846.4

p.P303T

c.907C>A

2 papers

NM_015846.4

p.E315K

c.943G>A