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.F767_K770del0

c.2301_2309del9

Surrounding Variants

1 paper

NM_001290208.3

p.S771A

c.2311T>G

1 paper

NM_001290208.3

p.S771L

c.2312C>T

1 paper

NM_001290208.3

p.F767_K770del4

c.2299_2309del12

1 paper

NM_001290208.3

p.N772D

c.2314A>G

5 papers

NM_001290208.3

p.H769Y

c.2305C>T

1 paper

NM_001290208.3

p.L773P

c.2318T>C

9 papers

NM_001290208.3

p.S774N

c.2321G>A

1 paper

NM_001290208.3

p.S774S

c.2322T>C

1 paper

NM_001290208.3

p.T766T

c.2298C>T

13 papers

NM_001290208.3

p.T775M

c.2324C>T

1 paper

NM_001290208.3

p.S774_T775delins

c.2321_2325delinsATACA

2 papers

NM_001290208.3

p.G764V

c.2291G>T