Varaico: Literature-Extracted Genetic Variants

Gene:ZNF48
Variant:p.D76G

ZNF48

36 papers

Pfam Domains

zf-C2H2aa 113–134UCSCZinc finger, C2H2 type
zf-C2H2aa 140–162UCSCZinc finger, C2H2 type
zf-C2H2aa 192–214UCSCZinc finger, C2H2 type
zf-C2H2aa 220–242UCSCZinc finger, C2H2 type
zf-C2H2aa 275–297UCSCZinc finger, C2H2 type
zf-C2H2aa 303–325UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 48

HGNC Previous Symbol

ZNF553

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001214909.2
p.D76G
c.227A>G
Surrounding Variants
1 paper
NM_001214909.2
p.V80insFs
c.238dupG
1 paper
NM_001214909.2
p.G71D
c.212G>A
1 paper
NM_001214909.2
p.A65A
c.195C>T
2 papers
NM_001214909.2
p.A65V
c.194C>T
1 paper
NM_001214909.2
p.D92N
c.274G>A
1 paper
NM_001214909.2
p.R102C
c.304C>T
1 paper
NM_001214909.2
p.A154V
c.461C>T
1 paper
NM_001214909.2
p.P167A
c.499C>G
1 paper
NM_001214909.2
p.Y168C
c.503A>G
1 paper
NM_001214909.2
p.R171W
c.511C>T
1 paper
NM_001214909.2
p.F201S
c.602T>C
1 paper
NM_001214909.2
p.R235H
c.704G>A
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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."