Varaico: Literature-Extracted Genetic Variants

Gene:ZNF517

ZNF517

35 papers

Pfam Domains

KRABaa 13–54UCSCKRAB box
zf-C2H2aa 179–199UCSCZinc finger, C2H2 type
zf-C2H2aa 205–227UCSCZinc finger, C2H2 type
zf-C2H2aa 233–255UCSCZinc finger, C2H2 type
zf-C2H2aa 261–283UCSCZinc finger, C2H2 type
zf-C2H2aa 289–311UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 517

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
2 papers
NM_213605.3
p.H446Y
c.1336C>T
2 papers
NM_213605.3
p.E477Q
c.1429G>C
1 paper
NM_213605.3
p.Y47C
c.140A>G
1 paper
NM_213605.3
p.S93F
c.278C>T
1 paper
NM_213605.3
p.R110K
c.329G>A
1 paper
NM_213605.3
p.L122P
c.365T>C
1 paper
NM_213605.3
p.G130insFs
c.390dupG
1 paper
NM_213605.3
p.H131fs
c.391_392fs
1 paper
NM_213605.3
p.V181M
c.541G>A
1 paper
NM_213605.3
p.S218F
c.653C>T
1 paper
NM_213605.3
p.L225M
c.673C>A
1 paper
NM_213605.3
p.F242L
c.724T>C
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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."