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

9 papers

NM_001290208.3

p.F628V

c.1882T>G

Surrounding Variants

1 paper

NM_001290208.3

p.F628S

c.1883T>C

4 papers

NM_001290208.3

p.T627fs

c.1879_1880fs

3 papers

NM_001290208.3

p.T627delFs

c.1879delT

1 paper

NM_001290208.3

p.T627P

c.1879A>C

2 papers

NM_001290208.3

p.R629H

c.1886G>A

2 papers

NM_001290208.3

p.G625G

c.1875A>G

1 paper

NM_001290208.3

p.N633D

c.1897A>G

1 paper

NM_001290208.3

p.N622S

c.1865A>G

2 papers

NM_001290208.3

p.N622D

c.1864A>G

1 paper

NM_001290208.3

p.N622_E623insG

c.1864_1868ins3

1 paper

NM_001290208.3

p.E620insFs

c.1859_1860insA

1 paper

NM_001290208.3

p.C621G

c.1861T>G