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

13 papers

NM_001290208.3

p.K672R

c.2015A>G

Surrounding Variants

2 papers

NM_001290208.3

p.K672Q

c.2014A>C

3 papers

NM_001290208.3

p.K672fs

c.2014_2015fs

3 papers

NM_001290208.3

p.G671delFs

c.2013delC

2 papers

NM_001290208.3

p.K672fs

c.2014_2015fs

3 papers

NM_001290208.3

p.G671fs

c.2011_2012fs

1 paper

NM_001290208.3

p.G671G

c.2013G>C

1 paper

NM_001290208.3

p.N673fs

c.2017_2018fs

1 paper

NM_001290208.3

p.T670fs

c.2008_2009fs

3 papers

NM_001290208.3

p.T670Fs

c.2010delinsAGFs

7 papers

NM_001290208.3

p.R674S

c.2020C>A

5 papers

NM_001290208.3

p.R674H

c.2021G>A

3 papers

NM_001290208.3

p.T670insFs

c.2009_2010insA