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.F376fs

c.1126_1127fs

Surrounding Variants

3 papers

NM_001290208.3

p.F376fs

c.1126_1127fs

3 papers

NM_001290208.3

p.F376_H377Fs

c.1127_1129delinsCFs

1 paper

NM_001290208.3

p.C378Y

c.1133G>A

1 paper

NM_001290208.3

p.C378*

c.1134T>A

1 paper

NM_001290208.3

p.K379K

c.1137G>A

6 papers

NM_001290208.3

p.H385R

c.1154A>G

1 paper

NM_001290208.3

p.P366H

c.1097C>A

1 paper

NM_001290208.3

p.K365K

c.1095A>G

2 papers

NM_001290208.3

p.H386Q

c.1158C>G

2 papers

NM_001290208.3

p.H386Q

c.1158C>A

1 paper

NM_001290208.3

p.D364fs

c.1090_1091fs

2 papers

NM_001290208.3

p.R387K

c.1160G>A