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.G457R

c.1369G>A

Surrounding Variants

11 papers

NM_001290208.3

p.G457R

c.1369G>C

1 paper

NM_001290208.3

p.G457G

c.1371A>G

1 paper

NM_001290208.3

p.F460V

c.1378T>G

10 papers

NM_001290208.3

p.C453Y

c.1358G>A

1 paper

NM_001290208.3

p.N462H

c.1384A>C

1 paper

NM_001290208.3

p.P450P

c.1350G>C

1 paper

NM_001290208.3

p.K463K

c.1389G>A

1 paper

NM_001290208.3

p.K449K

c.1347A>G

1 paper

NM_001290208.3

p.N465Y

c.1393A>T

1 paper

NM_001290208.3

p.E448fs

c.1342_1343fs

1 paper

NM_001290208.3

p.E448fs

c.1342_1343fs

2 papers

NM_001290208.3

p.T446_G447delFs

c.1338_1339delCT