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.C568S

c.1703G>C

Surrounding Variants

1 paper

NM_001290208.3

p.S571T

c.1711T>A

9 papers

NM_001290208.3

p.C565S

c.1694G>C

9 papers

NM_001290208.3

p.C565S

c.1693T>A

1 paper

NM_001290208.3

p.F572V

c.1714T>G

7 papers

NM_001290208.3

p.H573Y

c.1717C>T

1 paper

NM_001290208.3

p.K561N

c.1683A>T

1 paper

NM_001290208.3

p.K561N

c.1683A>C

5 papers

NM_001290208.3

p.K575N

c.1725G>T

5 papers

NM_001290208.3

p.K575N

c.1725G>C

2 papers

NM_001290208.3

p.E560fs

c.1678_1679fs

2 papers

NM_001290208.3

p.S576fs

c.1726_1727fs

1 paper

NM_001290208.3

p.S576delins

c.1727delinsTATAAGT