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.K238R

c.713A>G

Surrounding Variants

1 paper

NM_001290208.3

p.G237G

c.711T>G

9 papers

NM_001290208.3

p.F236V

c.706T>G

5 papers

NM_001290208.3

p.V233G

c.698T>G

1 paper

NM_001290208.3

p.A245V

c.734C>T

1 paper

NM_001290208.3

p.H231D

c.691C>G

1 paper

NM_001290208.3

p.V230A

c.689T>C

6 papers

NM_001290208.3

p.R229K

c.686G>A

2 papers

NM_001290208.3

p.N247K

c.741T>G

2 papers

NM_001290208.3

p.N247K

c.741T>A

4 papers

NM_001290208.3

p.S249L

c.746C>T

13 papers

NM_001290209.3

p.S199*

c.596C>G

NM_001290208.3

p.S249*

c.746C>G

13 papers

NM_001290209.3

p.S199*

c.596C>A

NM_001290208.3

p.S249*

c.746C>A