Varaico: Literature-Extracted Genetic Variants

Gene:ZNF117
Variant:p.E113fs

ZNF117

47 papers

RefSeq Summary

This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus,...

Pfam Domains

zf-C2H2aa 109–130UCSCZinc finger, C2H2 type
zf-H2C2_2aa 151–176UCSCZinc-finger double domain
zf-C2H2aa 193–215UCSCZinc finger, C2H2 type
zf-C2H2aa 221–243UCSCZinc finger, C2H2 type
zf-C2H2aa 249–271UCSCZinc finger, C2H2 type
zf-C2H2aa 277–299UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 117

HGNC Alias Symbols

HPF9; H-plk

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015852.5
p.E113fs
c.337_338fs
Surrounding Variants
4 papers
NM_015852.5
p.K112N
c.336A>T
4 papers
NM_015852.5
p.K112N
c.336A>C
1 paper
NM_015852.5
p.K112_E113insFs
c.336_337insC
1 paper
NM_015852.5
p.S96L
c.287C>T
1 paper
NM_015852.5
p.F136L
c.406T>C
1 paper
NM_015852.5
p.F136L
c.408C>G
1 paper
NM_015852.5
p.F136L
c.408C>A
1 paper
NM_015852.5
p.C83Y
c.248G>A
1 paper
NM_015852.5
p.A145insFs
c.435dupC
1 paper
NM_015852.5
p.F146fs
c.436_437fs
2 papers
NM_015852.5
p.R157I
c.470G>T
1 paper
NM_015852.5
p.E162E
c.486A>G
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