Varaico: Literature-Extracted Genetic Variants

Gene:ZNF382
Variant:p.D139N

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
Selected Variant
1 paper
NM_032825.5
p.D139N
c.415G>A
Surrounding Variants
1 paper
NM_032825.5
p.D139H
c.415G>C
1 paper
NM_032825.5
p.R127C
c.379C>T
1 paper
NM_032825.5
p.F161_T165delFs
c.483_493del11
1 paper
NM_032825.5
p.T165insFs
c.493_494insA
1 paper
NM_032825.5
p.T165_G166delFs
c.495_496delTG
1 paper
NM_032825.5
p.G166insFs
c.496dupG
1 paper
NM_032825.5
p.G166delFs
c.496delG
1 paper
NM_032825.5
p.E168G
c.503A>G
1 paper
NM_032825.5
p.L109fs
c.325_326fs
1 paper
NM_032825.5
p.K108insFs
c.324dupA
1 paper
NM_032825.5
p.I179T
c.536T>C
1 paper
NM_032825.5
p.P181T
c.541C>A
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