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

1 paper

NM_001290208.3

p.D676N

c.2026G>A

Surrounding Variants

5 papers

NM_001290208.3

p.R674H

c.2021G>A

7 papers

NM_001290208.3

p.R674S

c.2020C>A

11 papers

NM_001290208.3

p.M678T

c.2033T>C

1 paper

NM_001290208.3

p.N673fs

c.2017_2018fs

6 papers

NM_001290208.3

p.M678I

c.2034G>T

6 papers

NM_001290208.3

p.M678I

c.2034G>C

6 papers

NM_001290208.3

p.M678I

c.2034G>A

1 paper

NM_001290208.3

p.M678delins

c.2033_2034delinsCC

3 papers

NM_001290208.3

p.K672fs

c.2014_2015fs

5 papers

NM_001290208.3

p.N679K

c.2037T>G

5 papers

NM_001290208.3

p.N679K

c.2037T>A

13 papers

NM_001290208.3

p.K672R

c.2015A>G