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

7 papers

NM_001290208.3

p.K798R

c.2393A>G

Surrounding Variants

1 paper

NM_001290208.3

p.Y796_K798delins

c.2387_2393delinsGCCATAG

11 papers

NM_001290208.3

p.T799A

c.2395A>G

8 papers

NM_001290208.3

p.D797H

c.2389G>C

1 paper

NM_001290208.3

p.L801F

c.2401C>T

1 paper

NM_001290208.3

p.F795L

c.2383T>C

3 papers

NM_001290208.3

p.K793N

c.2379A>T

1 paper

NM_001290208.3

p.R792G

c.2374A>G

1 paper

NM_001290208.3

p.C791F

c.2372G>T

1 paper

NM_001290208.3

p.C791S

c.2372G>C

1 paper

NM_001290208.3

p.C791S

c.2371T>A

3 papers

NM_001290208.3

p.T807S

c.2419A>T

12 papers

NM_001290208.3

p.T807I

c.2420C>T