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

3 papers

NM_001290208.3

p.K817_R820del4

c.2449_2459del12

Surrounding Variants

6 papers

NM_001290208.3

p.K817_R820del0

c.2451_2459del9

1 paper

NM_001290208.3

p.R820K

c.2459G>A

3 papers

NM_001290208.3

p.S824S

c.2472C>T

11 papers

NM_001290208.3

p.K826E

c.2476A>G

14 papers

NM_001290208.3

p.L829P

c.2486T>C

9 papers

NM_001290208.3

p.P813S

c.2437C>T

6 papers

NM_001290208.3

p.P813T

c.2437C>A

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

2 papers

NM_001290208.3

p.H808Y

c.2422C>T

12 papers

NM_001290208.3

p.T807I

c.2420C>T

3 papers

NM_001290208.3

p.T807S

c.2420C>G