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.Y548*

c.1644T>A

Surrounding Variants

1 paper

NM_021964.3

p.Y548*

c.1644T>G

1 paper

NM_021964.3

p.D546H

c.1636G>C

1 paper

NM_021964.3

p.L544delFs

c.1630_1631delAG

1 paper

NM_021964.3

p.L544fs

c.1630_1631fs

1 paper

NM_021964.3

p.G554R

c.1660G>C

1 paper

NM_021964.3

p.G554R

c.1660G>A

2 papers

NM_021964.3

p.Q542*

c.1624C>T

1 paper

NM_021964.3

p.Q555L

c.1664A>T

1 paper

NM_021964.3

p.V540A

c.1619T>C

1 paper

NM_021964.3

p.E557K

c.1669G>A

1 paper

NM_021964.3

p.E557D

c.1671G>T

1 paper

NM_021964.3

p.E557D

c.1671G>C