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

3 papers

NM_021964.3

p.S324insFs

c.970dupT

Surrounding Variants

1 paper

NM_021964.3

p.S324*

c.971C>G

1 paper

NM_021964.3

p.S324*

c.971C>A

3 papers

NM_021964.3

p.S324fs

c.970_971fs

1 paper

NM_021964.3

p.K322R

c.965A>G

2 papers

NM_021964.3

p.T320M

c.959C>T

1 paper

NM_021964.3

p.L338delFs

c.1012delG

1 paper

NM_021964.3

p.D341H

c.1021G>C

1 paper

NM_021964.3

p.S306A

c.916T>G

1 paper

NM_021964.3

p.G302A

c.905G>C

1 paper

NM_021964.3

p.S350F

c.1049C>T

1 paper

NM_021964.3

p.G293S

c.877G>A

1 paper

NM_021964.3

p.K291R

c.872A>G