Varaico: Literature-Extracted Genetic Variants

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.T188S

c.563C>G

Surrounding Variants

1 paper

NM_015852.5

p.T188S

c.562A>T

3 papers

NM_015852.5

p.E189G

c.566A>G

1 paper

NM_015852.5

p.E190K

c.568G>A

1 paper

NM_015852.5

p.E190fs

c.568_569fs

3 papers

NM_015852.5

p.R185I

c.554G>T

1 paper

NM_015852.5

p.L180L

c.540T>A

1 paper

NM_015852.5

p.A201A

c.603C>T

1 paper

NM_015852.5

p.G171G

c.513C>A

1 paper

NM_015852.5

p.P164P

c.492T>C

1 paper

NM_015852.5

p.P164fs

c.490_491fs

1 paper

NM_015852.5

p.E162E

c.486A>G

2 papers

NM_015852.5

p.R157I

c.470G>T