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.F733L

c.2197T>C

Surrounding Variants

1 paper

NM_021964.3

p.F733L

c.2199C>G

1 paper

NM_021964.3

p.F733L

c.2199C>A

1 paper

NM_021964.3

p.R734C

c.2200C>T

1 paper

NM_021964.3

p.R734H

c.2201G>A

1 paper

NM_021964.3

p.I744L

c.2230A>T

1 paper

NM_021964.3

p.I744L

c.2230A>C

1 paper

NM_021964.3

p.E716Q

c.2146G>C

1 paper

NM_021964.3

p.S711F

c.2132C>T

1 paper

NM_021964.3

p.Q708H

c.2124A>T

1 paper

NM_021964.3

p.Q708H

c.2124A>C

1 paper

NM_021964.3

p.R758W

c.2272C>T

1 paper

NM_021964.3

p.D704fs

c.2110_2111fs