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.*795del1

c.2383_2384delTTA

Surrounding Variants

1 paper

NM_021964.3

p.*795fs

c.2383_2384fs

1 paper

NM_021964.3

p.*795delFs

c.2383_2384delTA

1 paper

NM_021964.3

p.*795delFs

c.2383delA

1 paper

NM_021964.3

p.*795K

c.2383T>A

1 paper

NM_021964.3

p.Q791H

c.2373G>T

1 paper

NM_021964.3

p.Q791H

c.2373G>C

1 paper

NM_021964.3

p.A787P

c.2359G>C

1 paper

NM_021964.3

p.R778_A779delFs

c.2334_2335delCT

1 paper

NM_021964.3

p.R778fs

c.2332_2333fs

1 paper

NM_021964.3

p.P770S

c.2308C>T

1 paper

NM_021964.3

p.R758W

c.2272C>T

1 paper

NM_021964.3

p.I744L

c.2230A>T