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

1–12 of 89 variants

6 papers

NM_015846.4

p.R269C

c.805C>T

6 papers

NM_015846.4

p.P401A

c.1201C>G

2 papers

NM_015846.4

p.P128S

c.382C>T

2 papers

NM_015846.4

p.G273S

c.817G>A

2 papers

NM_015846.4

p.E315K

c.943G>A

2 papers

NM_015846.4

p.R593Splc

c.1779-27C>T

1 paper

NM_015846.4

p.M1V

c.1A>G

1 paper

NM_015846.4

p.W5delFs

c.13_14delCA

1 paper

NM_015846.4

p.W5_L6del1

c.15_17delAGC

1 paper

NM_015846.4

p.P13_G14del2

c.37_41del6

1 paper

NM_015846.4

p.R17C

c.49C>T

1 paper

NM_015846.4

p.W15_R17del0

c.45_50del6