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

2 papers

NM_021964.3

p.K607fs

c.1819_1820fs

Surrounding Variants

2 papers

NM_021964.3

p.S606insFs

c.1818dupC

1 paper

NM_021964.3

p.Y605*

c.1815C>G

1 paper

NM_021964.3

p.Y605*

c.1815C>A

1 paper

NM_021964.3

p.E604*

c.1810G>T

1 paper

NM_021964.3

p.Q610*

c.1828C>T

1 paper

NM_021964.3

p.M601delFs

c.1801_1802delAT

1 paper

NM_021964.3

p.M601fs

c.1801_1802fs

1 paper

NM_021964.3

p.N600D

c.1798A>G

4 papers

NM_021964.3

p.K598*

c.1792A>T

1 paper

NM_021964.3

p.S596*

c.1787C>G

1 paper

NM_021964.3

p.S596*

c.1787C>A

1 paper

NM_021964.3

p.S589*

c.1766C>G