Varaico: Literature-Extracted Genetic Variants

ZNF148

80 papers

RefSeq Summary

The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosp...

Pfam Domains

zf-C2H2aa 171–193UCSCZinc finger, C2H2 type

zf-C2H2aa 199–221UCSCZinc finger, C2H2 type

zf-C2H2aa 227–249UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 148

HGNC Alias Symbols

BERF-1; ZBP-89; BFCOL1; HT-BETA; ZFP148; pHZ-52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021964.3

p.S584*

c.1751C>G

Surrounding Variants

1 paper

NM_021964.3

p.S584*

c.1751C>A

2 papers

NM_021964.3

p.P583P

c.1749G>A

2 papers

NM_021964.3

p.P583Q

c.1748C>A

1 paper

NM_021964.3

p.G588V

c.1763G>T

1 paper

NM_021964.3

p.P579L

c.1736C>T

1 paper

NM_021964.3

p.S589*

c.1766C>G

1 paper

NM_021964.3

p.S589*

c.1766C>A

1 paper

NM_021964.3

p.E577D

c.1731A>T

1 paper

NM_021964.3

p.E577D

c.1731A>C

1 paper

NM_021964.3

p.S576S

c.1728A>T

1 paper

NM_021964.3

p.S596*

c.1787C>G

1 paper

NM_021964.3

p.S596*

c.1787C>A