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

2 papers

NM_001290208.3

p.N594I

c.1781A>T

Surrounding Variants

13 papers

NM_001290209.3

p.E545K

c.1633G>A

NM_001290208.3

p.E595K

c.1783G>A

12 papers

NM_001290208.3

p.G587S

c.1759G>A

1 paper

NM_001290208.3

p.F600_N602del3

c.1798_1805del9

1 paper

NM_001290208.3

p.K603K

c.1809G>A

1 paper

NM_001290208.3

p.N605K

c.1815C>G

9 papers

NM_001290208.3

p.H581R

c.1742A>G

3 papers

NM_001290208.3

p.L578fs

c.1732_1733fs

1 paper

NM_001290208.3

p.L578Fs

c.1732delinsATTTCFs

3 papers

NM_001290208.3

p.L578fs

c.1732_1733fs

2 papers

NM_001290208.3

p.F577F

c.1731C>T

3 papers

NM_001290208.3

p.F577_L578insFs

c.1731_1732ins4

2 papers

NM_001290208.3

p.F577_L578insFs

c.1731_1732insAT