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.S398_E399insAA

c.1192_1196ins6

Surrounding Variants

1 paper

NM_001290208.3

p.C397C

c.1191T>C

2 papers

NM_001290208.3

p.C397F

c.1190G>T

5 papers

NM_001290208.3

p.C400R

c.1198T>C

1 paper

NM_001290208.3

p.K393K

c.1179G>A

1 paper

NM_001290208.3

p.F404Y

c.1211T>A

1 paper

NM_001290208.3

p.S390L

c.1169C>T

1 paper

NM_001290208.3

p.S390T

c.1168T>A

2 papers

NM_001290208.3

p.R387K

c.1160G>A

2 papers

NM_001290208.3

p.H386Q

c.1158C>G

2 papers

NM_001290208.3

p.H386Q

c.1158C>A

2 papers

NM_001290208.3

p.L410V

c.1228C>G

6 papers

NM_001290208.3

p.H385R

c.1154A>G