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

1–12 of 231 variants

4 papers

NM_021964.3

p.K598*

c.1792A>T

3 papers

NM_021964.3

p.S324fs

c.970_971fs

3 papers

NM_021964.3

p.S324insFs

c.970dupT

3 papers

NM_021964.3

p.A488V

c.1463C>T

3 papers

NM_021964.3

p.I527_K528insFs

c.1581_1582insC

3 papers

NM_021964.3

p.K528fs

c.1582_1583fs

3 papers

NM_021964.3

p.K528insFs

c.1583dupA

3 papers

NM_021964.3

p.S529fs

c.1585_1586fs

2 papers

NM_021964.3

p.I209fs

c.625_626fs

2 papers

NM_021964.3

p.D282G

c.845A>G

2 papers

NM_021964.3

p.T320M

c.959C>T

2 papers

NM_021964.3

p.D443H

c.1327G>C