Varaico: Literature-Extracted Genetic Variants

GATAD2B

109 papers

RefSeq Summary

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated ...

Pfam Domains

P66_CCaa 157–200UCSCCoiled-coil and interaction region of P66A and P66B with MBD2

GATAaa 420–454UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA zinc finger domain containing 2B

HGNC Alias Symbol

P66beta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 179 variants

10 papers

NM_020699.4

p.Q470*

c.1408C>T

6 papers

NM_020699.4

p.R116*

c.346C>T

6 papers

NM_020699.4

p.G406Splc

c.1217-2A>G

6 papers

NM_020699.4

p.R478*

c.1432C>T

5 papers

NM_020699.4

p.Q274*

c.820C>T

5 papers

NM_020699.4

p.Q349*

c.1045C>T

4 papers

NM_020699.4

p.Q188*

c.562C>T

4 papers

NM_020699.4

p.Q190fs

c.568_569fs

4 papers

NM_020699.4

p.Q237*

c.709C>T

4 papers

NM_020699.4

p.Q325*

c.973C>T

4 papers

NM_020699.4

p.A490V

c.1469C>T

3 papers

NM_020699.4

p.L28fs

c.82_83fs