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.S576fs

c.1726_1727fs

Surrounding Variants

5 papers

NM_001290208.3

p.K575N

c.1725G>T

5 papers

NM_001290208.3

p.K575N

c.1725G>C

1 paper

NM_001290208.3

p.S576delins

c.1727delinsTATAAGT

2 papers

NM_001290208.3

p.S576insFs

c.1726_1727ins7

2 papers

NM_001290208.3

p.S576Fs

c.1727delinsTATAAGTCFs

3 papers

NM_001290208.3

p.F577ins1

c.1729_1730insAAG

1 paper

NM_001290208.3

p.F577insFs

c.1729_1730insA

2 papers

NM_001290208.3

p.F577insFs

c.1729_1730insAA

2 papers

NM_001290208.3

p.F577insFs

c.1730_1731ins7

1 paper

NM_001290208.3

p.F577delins

c.1730delinsAAGT

2 papers

NM_001290208.3

p.F577F

c.1731C>T

3 papers

NM_001290208.3

p.F577_L578insFs

c.1731_1732ins4