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.A437V

c.1310C>T

Surrounding Variants

1 paper

NM_002384.3

p.D377N

c.1129G>A

1 paper

NM_015846.4

p.R428H

c.1283G>A

1 paper

NM_015846.4

p.P452A

c.1354C>G

1 paper

NM_015846.4

p.L459delFs

c.1376delA

1 paper

NM_015846.4

p.S411F

c.1232C>T

1 paper

NM_015846.4

p.R404H

c.1211G>A

1 paper

NM_015846.4

p.P470P

c.1410G>A

6 papers

NM_015846.4

p.P401A

c.1201C>G

1 paper

NM_015846.4

p.T510fs

c.1528_1529fs

1 paper

NM_015846.4

p.F380fs

c.1138_1139fs

1 paper

NM_015846.4

p.F380insFs

c.1138_1139ins8

1 paper

NM_015846.4

p.K371M

c.1112A>T