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

3 papers

NM_001290208.3

p.T217_F218del1

c.650_652delAGG

Surrounding Variants

7 papers

NM_001290208.3

p.T220M

c.659C>T

9 papers

NM_001290208.3

p.G215V

c.644G>T

3 papers

NM_001290208.3

p.G215E

c.644G>A

4 papers

NM_001290208.3

p.A222V

c.665C>T

5 papers

NM_001290208.3

p.M223I

c.669G>T

5 papers

NM_001290208.3

p.M223I

c.669G>C

5 papers

NM_001290208.3

p.M223I

c.669G>A

2 papers

NM_001290208.3

p.E213K

c.637G>A

1 paper

NM_001290208.3

p.F224S

c.671T>C

2 papers

NM_001290208.3

p.Q210fs

c.628_629fs

1 paper

NM_001290208.3

p.Q210L

c.629A>T

4 papers

NM_001290208.3

p.Q210fs

c.628_629fs