Varaico: Literature-Extracted Genetic Variants

Gene:ZNF248
Variant:p.Q288H

ZNF248

36 papers

Pfam Domains

KRABaa 7–48UCSCKRAB box
zf-C2H2aa 380–402UCSCZinc finger, C2H2 type
zf-C2H2aa 408–430UCSCZinc finger, C2H2 type
zf-C2H2aa 436–458UCSCZinc finger, C2H2 type
zf-C2H2aa 464–486UCSCZinc finger, C2H2 type
zf-C2H2aa 492–514UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 248

HGNC Alias Symbol

bA162G10.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021045.3
p.Q288H
c.864G>T
Surrounding Variants
1 paper
NM_021045.3
p.Q288H
c.864G>C
1 paper
NM_021045.3
p.L291V
c.871C>G
1 paper
NM_021045.3
p.H264R
c.791A>G
1 paper
NM_021045.3
p.R262S
c.786A>T
1 paper
NM_021045.3
p.R262S
c.786A>C
1 paper
NM_021045.3
p.R325C
c.973C>T
1 paper
NM_021045.3
p.K336T
c.1007A>C
1 paper
NM_021045.3
p.S235P
c.703T>C
1 paper
NM_021045.3
p.N232D
c.694A>G
1 paper
NM_021045.3
p.T231A
c.691A>G
1 paper
NM_021045.3
p.G349fs
c.1045_1046fs
1 paper
NM_021045.3
p.K218R
c.653A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."