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.N121K

c.363C>A

Surrounding Variants

3 papers

NM_001290208.3

p.N121K

c.363C>G

2 papers

NM_001290208.3

p.T124fs

c.370_371fs

2 papers

NM_001290208.3

p.T124insFs

c.370dupA

2 papers

NM_001290208.3

p.T124fs

c.370_371fs

4 papers

NM_001290208.3

p.R127T

c.380G>C

1 paper

NM_001290208.3

p.V128V

c.384T>G

1 paper

NM_001290208.3

p.R127_V128delins

c.380_384delinsCAGTG

3 papers

NM_001290208.3

p.Q114H

c.342A>T

3 papers

NM_001290208.3

p.Q114H

c.342A>C

11 papers

NM_001290208.3

p.Q114K

c.340C>A

2 papers

NM_001290208.3

p.G131E

c.392G>A

1 paper

NM_001290208.3

p.R110I

c.329G>T