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

11 papers

NM_001290208.3

p.I327T

c.980T>C

Surrounding Variants

6 papers

NM_001290208.3

p.S325G

c.973A>G

1 paper

NM_001290208.3

p.S324_S325delins

c.972_973delinsTG

2 papers

NM_001290208.3

p.S324S

c.972C>T

1 paper

NM_001290208.3

p.R331K

c.992G>A

6 papers

NM_001290208.3

p.Y322C

c.965A>G

4 papers

NM_001290208.3

p.S321fs

c.961_962fs

3 papers

NM_001290208.3

p.S321insFs

c.961dupA

1 paper

NM_001290208.3

p.S321fs

c.961_962fs

7 papers

NM_001290208.3

p.G335E

c.1004G>A

1 paper

NM_001290208.3

p.K318E

c.952A>G

5 papers

NM_001290208.3

p.W315C

c.945G>T

5 papers

NM_001290208.3

p.W315C

c.945G>C