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

14 papers

NM_001290208.3

p.P702S

c.2104C>T

Surrounding Variants

1 paper

NM_001290208.3

p.P702R

c.2105C>G

1 paper

NM_001290208.3

p.P702P

c.2106T>G

2 papers

NM_001290208.3

p.S701N

c.2102G>A

1 paper

NM_001290208.3

p.M703L

c.2107A>C

3 papers

NM_001290208.3

p.N704K

c.2112T>G

3 papers

NM_001290208.3

p.N704K

c.2112T>A

9 papers

NM_001290208.3

p.P698L

c.2093C>T

1 paper

NM_001290208.3

p.T697_P698delins

c.2090_2093delinsAACT

4 papers

NM_001290208.3

p.T697K

c.2090C>A

2 papers

NM_001290208.3

p.T697S

c.2089A>T

1 paper

NM_001290208.3

p.N707K

c.2121T>G

4 papers

NM_001290208.3

p.L696H

c.2087T>A