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.Q409*

c.1225C>T

Surrounding Variants

1 paper

NM_021964.3

p.N408insFs

c.1223dupA

1 paper

NM_021964.3

p.N408fs

c.1222_1223fs

1 paper

NM_021964.3

p.L414*

c.1241T>G

1 paper

NM_021964.3

p.L414*

c.1241T>A

1 paper

NM_021964.3

p.Q403insFs

c.1208dupA

1 paper

NM_021964.3

p.K402N

c.1206A>T

1 paper

NM_021964.3

p.K402N

c.1206A>C

1 paper

NM_021964.3

p.E418K

c.1252G>A

1 paper

NM_021964.3

p.R399I

c.1196G>T

1 paper

NM_021964.3

p.S397_K398delFs

c.1191_1194del4

1 paper

NM_021964.3

p.S397fs

c.1189_1190fs

1 paper

NM_021964.3

p.S397fs

c.1189_1190fs