Varaico: Literature-Extracted Genetic Variants

ZNF382

40 papers

RefSeq Summary

This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. ...

Pfam Domains

KRABaa 6–47UCSCKRAB box

zf-C2H2aa 296–318UCSCZinc finger, C2H2 type

zf-C2H2aa 324–346UCSCZinc finger, C2H2 type

zf-C2H2aa 352–374UCSCZinc finger, C2H2 type

zf-C2H2aa 380–402UCSCZinc finger, C2H2 type

zf-C2H2aa 408–430UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 382

HGNC Alias Symbols

FLJ14686; KS1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 47 variants

2 papers

NM_032825.5

p.T546I

c.1637C>T

2 papers

NM_032825.5

p.T547M

c.1640C>T

1 paper

NM_032825.5

p.M1I

c.3G>A

1 paper

NM_032825.5

p.L3L

c.9A>G

1 paper

NM_032825.5

p.S8L

c.23C>T

1 paper

NM_032825.5

p.K10Q

c.28A>C

1 paper

NM_032825.5

p.L65P

c.194T>C

1 paper

NM_032825.5

p.I70N

c.209T>A

1 paper

NM_032825.5

p.L77Q

c.230T>A

1 paper

NM_032825.5

p.K108insFs

c.324dupA

1 paper

NM_032825.5

p.L109fs

c.325_326fs

1 paper

NM_032825.5

p.R127C

c.379C>T