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.S350F

c.1049C>T

Surrounding Variants

1 paper

NM_021964.3

p.D341H

c.1021G>C

1 paper

NM_021964.3

p.A362_E363ins8

c.1084_1088ins24

1 paper

NM_021964.3

p.L338delFs

c.1012delG

1 paper

NM_021964.3

p.Y364*

c.1092T>G

1 paper

NM_021964.3

p.Y364*

c.1092T>A

1 paper

NM_021964.3

p.S371L

c.1112C>T

1 paper

NM_021964.3

p.V373A

c.1118T>C

1 paper

NM_021964.3

p.G375C

c.1123G>T

1 paper

NM_021964.3

p.S324*

c.971C>G

3 papers

NM_021964.3

p.S324insFs

c.970dupT

1 paper

NM_021964.3

p.S324*

c.971C>A

3 papers

NM_021964.3

p.S324fs

c.970_971fs