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.N650D

c.1948A>G

Surrounding Variants

16 papers

NM_001290208.3

p.C649*

c.1947T>A

1 paper

NM_001290208.3

p.E651V

c.1952A>T

3 papers

NM_001290208.3

p.V648I

c.1942G>A

2 papers

NM_001290208.3

p.G653*

c.1957G>T

7 papers

NM_001290208.3

p.N650_C652del3

c.1948_1955del9

1 paper

NM_001290208.3

p.E644K

c.1930G>A

1 paper

NM_001290208.3

p.G643G

c.1929A>G

1 paper

NM_001290208.3

p.T642delFs

c.1925_1926delTG

14 papers

NM_001290208.3

p.R658C

c.1972C>T

1 paper

NM_001290208.3

p.S660A

c.1978T>G

1 paper

NM_001290208.3

p.S660S

c.1980A>T

2 papers

NM_001290208.3

p.T636T

c.1908C>A