Varaico: Literature-Extracted Genetic Variants

Gene:ZNF48
Variant:p.Y571D

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.Y571D
c.1711T>G
Surrounding Variants
1 paper
NM_001214909.2
p.D490G
c.1469A>G
1 paper
NM_001214909.2
p.H473R
c.1418A>G
1 paper
NM_001214909.2
p.G421G
c.1263T>C
1 paper
NM_001214909.2
p.L406L
c.1216C>T
1 paper
NM_001214909.2
p.S369T
c.1106G>C
1 paper
NM_001214909.2
p.P362P
c.1086G>A
2 papers
NM_001214909.2
p.T326M
c.977C>T
1 paper
NM_001214909.2
p.L298S
c.893T>C
1 paper
NM_001214909.2
p.R259G
c.775C>G
1 paper
NM_001214909.2
p.R249fs
c.745_746fs
1 paper
NM_001214909.2
p.P247fs
c.739_740fs
1 paper
NM_001214909.2
p.R243Q
c.728G>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."