Varaico: Literature-Extracted Genetic Variants

Gene:ZNF517
Variant:p.E477Q

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
Selected Variant
2 papers
NM_213605.3
p.E477Q
c.1429G>C
Surrounding Variants
1 paper
NM_213605.3
p.G479R
c.1435G>A
1 paper
NM_213605.3
p.G479R
c.1435G>C
1 paper
NM_213605.3
p.R486W
c.1456C>T
1 paper
NM_213605.3
p.G458W
c.1372G>T
1 paper
NM_213605.3
p.G448S
c.1342G>A
2 papers
NM_213605.3
p.H446Y
c.1336C>T
1 paper
NM_213605.3
p.R444W
c.1330C>T
1 paper
NM_213605.3
p.E441K
c.1321G>A
1 paper
NM_213605.3
p.I417F
c.1249A>T
1 paper
NM_213605.3
p.Q415del1
c.1243_1245delCAG
1 paper
NM_213605.3
p.N410Y
c.1228A>T
1 paper
NM_213605.3
p.R388H
c.1163G>A
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