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.H441Y

c.1321C>T

Surrounding Variants

2 papers

NM_001290208.3

p.V440A

c.1319T>C

2 papers

NM_001290208.3

p.T439I

c.1316C>T

1 paper

NM_001290208.3

p.L438F

c.1312C>T

8 papers

NM_001290208.3

p.R437K

c.1310G>A

1 paper

NM_001290208.3

p.R437W

c.1309A>T

2 papers

NM_001290208.3

p.T446_G447delFs

c.1338_1339delCT

3 papers

NM_001290208.3

p.H434Y

c.1300C>T

1 paper

NM_001290208.3

p.E448fs

c.1342_1343fs

3 papers

NM_001290208.3

p.S433I

c.1298G>T

4 papers

NM_001290208.3

p.S433N

c.1298G>A

1 paper

NM_001290208.3

p.E448fs

c.1342_1343fs

1 paper

NM_001290208.3

p.K449K

c.1347A>G