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

14 papers

NM_001290208.3

p.L829P

c.2486T>C

Surrounding Variants

14 papers

NM_001290209.3

p.H782Q

c.2346T>G

NM_001290208.3

p.H832Q

c.2496T>G

14 papers

NM_001290209.3

p.H782Q

c.2346T>A

NM_001290208.3

p.H832Q

c.2496T>A

11 papers

NM_001290208.3

p.K826E

c.2476A>G

3 papers

NM_001290208.3

p.S824S

c.2472C>T

3 papers

NM_001290208.3

p.K817_R820del4

c.2449_2459del12

2 papers

NM_001290208.3

p.T837K

c.2510C>A

6 papers

NM_001290208.3

p.K817_R820del0

c.2451_2459del9

13 papers

NM_001290208.3

p.G838E

c.2513G>A

1 paper

NM_001290208.3

p.R820K

c.2459G>A

18 papers

NM_001290208.3

p.K840*

c.2518A>T

1 paper

NM_001290208.3

p.K840delFs

c.2520delT

9 papers

NM_001290209.3

p.P791H

c.2372C>A

NM_001290208.3

p.P841H

c.2522C>A