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.L628R

c.1883T>G

Surrounding Variants

1 paper

NM_021964.3

p.P638Q

c.1913C>A

1 paper

NM_021964.3

p.Q640P

c.1919A>C

1 paper

NM_021964.3

p.Q640fs

c.1918_1919fs

1 paper

NM_021964.3

p.Q610*

c.1828C>T

1 paper

NM_021964.3

p.Q649*

c.1945C>T

1 paper

NM_021964.3

p.Q649Q

c.1947G>A

2 papers

NM_021964.3

p.K607fs

c.1819_1820fs

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.A652V

c.1955C>T

1 paper

NM_021964.3

p.E604*

c.1810G>T