Varaico: Literature-Extracted Genetic Variants

ZNF717

223 papers

RefSeq Summary

This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important rol...

Pfam Domains

KRABaa 21–62UCSCKRAB box

zf-C2H2aa 311–333UCSCZinc finger, C2H2 type

zf-C2H2aa 339–361UCSCZinc finger, C2H2 type

zf-C2H2aa 395–417UCSCZinc finger, C2H2 type

zf-C2H2aa 423–445UCSCZinc finger, C2H2 type

zf-C2H2aa 451–473UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 717

HGNC Previous Symbol

ZNF838

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001290208.3

p.L300L

c.898C>T

Surrounding Variants

7 papers

NM_001290208.3

p.L300I

c.898C>A

1 paper

NM_001290208.3

p.Q301*

c.901C>T

2 papers

NM_001290208.3

p.L298L

c.894T>C

8 papers

NM_001290208.3

p.C302R

c.904T>C

8 papers

NM_001290208.3

p.C302Y

c.905G>A

1 paper

NM_001290208.3

p.C302delins

c.904_905delinsCA

2 papers

NM_001290208.3

p.M304L

c.910A>T

2 papers

NM_001290208.3

p.M304L

c.910A>C

1 paper

NM_001290208.3

p.M304K

c.911T>A

1 paper

NM_001290208.3

p.P305P

c.915T>A

7 papers

NM_001290208.3

p.I293V

c.877A>G

1 paper

NM_001290208.3

p.E308G

c.923A>G