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.A652V

c.1955C>T

Surrounding Variants

2 papers

NM_021964.3

p.T653A

c.1957A>G

1 paper

NM_021964.3

p.Q649Q

c.1947G>A

1 paper

NM_021964.3

p.Q649*

c.1945C>T

1 paper

NM_021964.3

p.S658S

c.1974C>T

2 papers

NM_021964.3

p.R660*

c.1978C>T

1 paper

NM_021964.3

p.R660Q

c.1979G>A

1 paper

NM_021964.3

p.Q640fs

c.1918_1919fs

1 paper

NM_021964.3

p.Q640P

c.1919A>C

1 paper

NM_021964.3

p.S665C

c.1994C>G

1 paper

NM_021964.3

p.P638Q

c.1913C>A

2 papers

NM_021964.3

p.R668I

c.2003G>T

1 paper

NM_021964.3

p.P671L

c.2012C>T