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

16 papers

NM_001290209.3

p.R617S

c.1851A>C

NM_001290208.3

p.R667S

c.2001A>C

Surrounding Variants

16 papers

NM_001290209.3

p.R617S

c.1851A>T

NM_001290208.3

p.R667S

c.2001A>T

1 paper

NM_001290208.3

p.Q666fs

c.1996_1997fs

1 paper

NM_001290208.3

p.H669Y

c.2005C>T

1 paper

NM_001290208.3

p.Q666insFs

c.1997_1998ins34

3 papers

NM_001290208.3

p.Q666E

c.1996C>G

2 papers

NM_001290208.3

p.H665Y

c.1993C>T

3 papers

NM_001290208.3

p.T670insFs

c.2009_2010insA

1 paper

NM_001290208.3

p.T670fs

c.2008_2009fs

3 papers

NM_001290208.3

p.T670Fs

c.2010delinsAGFs

1 paper

NM_001290208.3

p.I664T

c.1991T>C

8 papers

NM_001290208.3

p.I664V

c.1990A>G

3 papers

NM_001290208.3

p.G671fs

c.2011_2012fs