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.F199Y

c.596T>A

Surrounding Variants

1 paper

NM_021964.3

p.P198T

c.592C>A

1 paper

NM_021964.3

p.R207C

c.619C>T

1 paper

NM_021964.3

p.R207H

c.620G>A

2 papers

NM_021964.3

p.I209fs

c.625_626fs

1 paper

NM_021964.3

p.R216K

c.647G>A

1 paper

NM_021964.3

p.F191L

c.573C>A

1 paper

NM_021964.3

p.H185N

c.553C>A

1 paper

NM_021964.3

p.Y184fs

c.550_551fs

1 paper

NM_021964.3

p.T182M

c.545C>T

1 paper

NM_021964.3

p.R181S

c.543A>T

1 paper

NM_021964.3

p.R181S

c.543A>C

1 paper

NM_021964.3

p.L155F

c.463C>T