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

11 papers

NM_001290208.3

p.T779I

c.2336C>T

Surrounding Variants

1 paper

NM_001290208.3

p.G778G

c.2334G>A

1 paper

NM_001290208.3

p.Q777H

c.2331G>T

1 paper

NM_001290208.3

p.Q777H

c.2331G>C

2 papers

NM_001290208.3

p.G782R

c.2344G>C

2 papers

NM_001290208.3

p.G782R

c.2344G>A

1 paper

NM_001290208.3

p.S774_T775delins

c.2321_2325delinsATACA

13 papers

NM_001290208.3

p.T775M

c.2324C>T

1 paper

NM_001290208.3

p.E783G

c.2348A>G

1 paper

NM_001290208.3

p.S774S

c.2322T>C

9 papers

NM_001290208.3

p.S774N

c.2321G>A

1 paper

NM_001290208.3

p.K784Fs

c.2351delinsGAAFs

1 paper

NM_001290208.3

p.P785T

c.2353C>A