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

5 papers

NM_001290208.3

p.F913_P914insFs

c.2739_2740insT

Surrounding Variants

3 papers

NM_001290208.3

p.F913fs

c.2737_2738fs

3 papers

NM_001290208.3

p.F913C

c.2738T>G

4 papers

NM_001290208.3

p.F913S

c.2738T>C

3 papers

NM_001290208.3

p.*915G

c.2743T>G

1 paper

NM_001290208.3

p.*915fs

c.2743_2744fs

2 papers

NM_001290208.3

p.S911fs

c.2731_2732fs

5 papers

NM_001290208.3

p.S911delFs

c.2732delG

1 paper

NM_001290208.3

p.*915fs

c.2743_2744fs

8 papers

NM_001290208.3

p.S911F

c.2732C>T

3 papers

NM_001290208.3

p.S911fs

c.2731_2732fs

2 papers

NM_001290208.3

p.V905V

c.2715G>A

6 papers

NM_001290208.3

p.V905A

c.2714T>C