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.R22C

c.64C>T

Surrounding Variants

1 paper

NM_015846.4

p.R22L

c.65G>T

1 paper

NM_015846.4

p.S24S

c.72A>G

1 paper

NM_015846.4

p.E19K

c.55G>A

1 paper

NM_015846.4

p.G25E

c.74G>A

1 paper

NM_015846.4

p.R18P

c.53G>C

1 paper

NM_015846.4

p.R18H

c.53G>A

1 paper

NM_015846.4

p.W15_R17del3

c.43_50del9

1 paper

NM_015846.4

p.W15_R17del0

c.45_50del6

1 paper

NM_015846.4

p.R17C

c.49C>T

1 paper

NM_015846.4

p.P13_G14del2

c.37_41del6

1 paper

NM_015846.4

p.D32A

c.95A>C

1 paper

NM_015846.4

p.Y34F

c.101A>T