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.Q433P

c.1298A>C

Surrounding Variants

1 paper

NM_021964.3

p.Q433H

c.1299G>T

1 paper

NM_021964.3

p.Q433H

c.1299G>C

1 paper

NM_021964.3

p.L435L

c.1305A>G

1 paper

NM_021964.3

p.L429F

c.1285C>T

1 paper

NM_021964.3

p.G440C

c.1318G>T

2 papers

NM_021964.3

p.D443H

c.1327G>C

1 paper

NM_021964.3

p.S423*

c.1268C>G

1 paper

NM_021964.3

p.S423*

c.1268C>A

1 paper

NM_021964.3

p.D445N

c.1333G>A

1 paper

NM_021964.3

p.Q446H

c.1338G>T

1 paper

NM_021964.3

p.Q446H

c.1338G>C

1 paper

NM_021964.3

p.E418K

c.1252G>A