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

12 papers

NM_001290208.3

p.H752Q

c.2256T>G

Surrounding Variants

12 papers

NM_001290208.3

p.H752Q

c.2256T>A

3 papers

NM_001290208.3

p.T753N

c.2258C>A

1 paper

NM_001290208.3

p.T753T

c.2259C>T

1 paper

NM_001290208.3

p.T751T

c.2253C>T

1 paper

NM_001290208.3

p.T753delins

c.2258_2259delinsAT

2 papers

NM_001290208.3

p.K756K

c.2268A>G

3 papers

NM_001290208.3

p.P757L

c.2270C>T

3 papers

NM_001290208.3

p.V747V

c.2241A>C

1 paper

NM_001290208.3

p.V747L

c.2239G>C

6 papers

NM_001290208.3

p.Y758F

c.2273A>T

1 paper

NM_001290208.3

p.Y758Y

c.2274T>C

1 paper

NM_001290208.3

p.Y758delins

c.2273_2274delinsTC