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

1 paper

NM_001290208.3

p.Q526insFs

c.1576_1577ins7

Surrounding Variants

4 papers

NM_001290208.3

p.H525Q

c.1575T>G

4 papers

NM_001290208.3

p.H525Q

c.1575T>A

1 paper

NM_001290208.3

p.R527ins1

c.1579_1580insAAG

4 papers

NM_001290208.3

p.R527K

c.1580G>A

2 papers

NM_001290208.3

p.V524V

c.1572C>A

1 paper

NM_001290208.3

p.V524F

c.1570G>T

1 paper

NM_001290208.3

p.R527_T528insFs

c.1581_1582ins4

5 papers

NM_001290208.3

p.A530T

c.1588G>A

1 paper

NM_001290208.3

p.A530D

c.1589C>A

1 paper

NM_001290208.3

p.K519M

c.1556A>T

3 papers

NM_001290208.3

p.C518Y

c.1553G>A

1 paper

NM_001290208.3

p.R517_C518delins

c.1550_1553delinsCCTA