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.T514M

c.1541C>T

Surrounding Variants

1 paper

NM_021964.3

p.S512fs

c.1534_1535fs

1 paper

NM_021964.3

p.S512delFs

c.1534delT

1 paper

NM_021964.3

p.E511*

c.1531G>T

1 paper

NM_021964.3

p.I509_D510insFs

c.1527_1530dup4

1 paper

NM_021964.3

p.I517I

c.1551A>T

1 paper

NM_021964.3

p.Q521*

c.1561C>T

1 paper

NM_021964.3

p.A522fs

c.1564_1565fs

1 paper

NM_021964.3

p.A503V

c.1508C>T

1 paper

NM_021964.3

p.E526*

c.1576G>T

3 papers

NM_021964.3

p.I527_K528insFs

c.1581_1582insC

3 papers

NM_021964.3

p.K528fs

c.1582_1583fs

3 papers

NM_021964.3

p.K528insFs

c.1583dupA