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.G172R

c.514G>A

Surrounding Variants

1 paper

NM_001290208.3

p.G172R

c.514G>C

3 papers

NM_001290208.3

p.G172G

c.516G>T

1 paper

NM_001290208.3

p.C162_G172del11

c.484_515del33

1 paper

NM_001290208.3

p.P171S

c.511C>T

1 paper

NM_001290208.3

p.P168delFs

c.502_503delGG

1 paper

NM_001290208.3

p.P168L

c.503C>T

2 papers

NM_001290208.3

p.F167L

c.501C>G

2 papers

NM_001290208.3

p.F167L

c.501C>A

2 papers

NM_001290208.3

p.F167L

c.499T>C

12 papers

NM_001290208.3

p.G177R

c.529G>C

10 papers

NM_001290208.3

p.G177R

c.529G>A

8 papers

NM_001290208.3

p.M165V

c.493A>G