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

2 papers

NM_001290208.3

p.I717I

c.2151C>A

Surrounding Variants

1 paper

NM_001290208.3

p.F718F

c.2154C>T

8 papers

NM_001290208.3

p.R719G

c.2155A>G

3 papers

NM_001290208.3

p.R719I

c.2156G>T

1 paper

NM_001290208.3

p.R719K

c.2156G>A

9 papers

NM_001290208.3

p.Q716E

c.2146C>G

1 paper

NM_001290208.3

p.R715R

c.2143A>C

1 paper

NM_001290208.3

p.K722*

c.2164A>T

9 papers

NM_001290208.3

p.K722Q

c.2164A>C

1 paper

NM_001290208.3

p.K722K

c.2166G>A

2 papers

NM_001290208.3

p.V723L

c.2167G>T

2 papers

NM_001290208.3

p.V723L

c.2167G>C

7 papers

NM_001290208.3

p.V723I

c.2167G>A