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.K486I

c.1457A>T

Surrounding Variants

1 paper

NM_001290208.3

p.T487M

c.1460C>T

2 papers

NM_001290208.3

p.G485R

c.1453G>C

2 papers

NM_001290208.3

p.G485R

c.1453G>A

1 paper

NM_001290208.3

p.R490C

c.1468C>T

5 papers

NM_001290208.3

p.R490H

c.1469G>A

1 paper

NM_001290208.3

p.R490R

c.1470T>A

1 paper

NM_001290208.3

p.R490delins

c.1469_1470delinsAA

2 papers

NM_001290208.3

p.K491R

c.1472A>G

1 paper

NM_001290208.3

p.S492T

c.1474T>A

1 paper

NM_001290208.3

p.S492L

c.1475C>T

1 paper

NM_001290208.3

p.F493I

c.1477T>A

3 papers

NM_001290208.3

p.Y479C

c.1436A>G