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.S461G

c.1381A>G

Surrounding Variants

1 paper

NM_021964.3

p.P457insFs

c.1371dupT

1 paper

NM_021964.3

p.V458fs

c.1372_1373fs

1 paper

NM_021964.3

p.P457H

c.1370C>A

1 paper

NM_021964.3

p.D465V

c.1394A>T

1 paper

NM_021964.3

p.A467S

c.1399G>T

1 paper

NM_021964.3

p.A467V

c.1400C>T

1 paper

NM_021964.3

p.M468L

c.1402A>T

1 paper

NM_021964.3

p.M468L

c.1402A>C

1 paper

NM_021964.3

p.G453W

c.1357G>T

1 paper

NM_021964.3

p.K472E

c.1414A>G

1 paper

NM_021964.3

p.R475W

c.1423C>T

1 paper

NM_021964.3

p.Q446H

c.1338G>T