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

2 papers

NM_001290208.3

p.C740insFs

c.2219_2220insCA

Surrounding Variants

2 papers

NM_001290208.3

p.C740fs

c.2218_2219fs

1 paper

NM_001290208.3

p.C740insFs

c.2218_2219insCA

1 paper

NM_001290208.3

p.A734A

c.2202A>G

1 paper

NM_001290208.3

p.A734T

c.2200G>A

1 paper

NM_001290208.3

p.V747L

c.2239G>C

3 papers

NM_001290208.3

p.V747V

c.2241A>C

1 paper

NM_001290208.3

p.P730A

c.2188C>G

2 papers

NM_001290208.3

p.P730T

c.2188C>A

1 paper

NM_001290208.3

p.T751T

c.2253C>T

12 papers

NM_001290208.3

p.H752Q

c.2256T>G

12 papers

NM_001290208.3

p.H752Q

c.2256T>A

1 paper

NM_001290208.3

p.R728R

c.2182A>C