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.C791S

c.2371T>A

Surrounding Variants

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.R792G

c.2374A>G

2 papers

NM_001290208.3

p.C788Y

c.2363G>A

3 papers

NM_001290208.3

p.K793N

c.2379A>T

1 paper

NM_001290208.3

p.F795L

c.2383T>C

2 papers

NM_001290208.3

p.E787K

c.2359G>A

13 papers

NM_001290208.3

p.Y786C

c.2357A>G

8 papers

NM_001290208.3

p.D797H

c.2389G>C

1 paper

NM_001290208.3

p.P785T

c.2353C>A

1 paper

NM_001290208.3

p.K784Fs

c.2351delinsGAAFs

7 papers

NM_001290208.3

p.K798R

c.2393A>G