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.N135_L136insA

c.403_407ins3

Surrounding Variants

1 paper

NM_001290208.3

p.F134_N135insA

c.400_404ins3

1 paper

NM_001290208.3

p.F134I

c.400T>A

2 papers

NM_001290208.3

p.T133fs

c.397_398fs

6 papers

NM_001290208.3

p.L136F

c.408G>T

6 papers

NM_001290208.3

p.L136F

c.408G>C

1 paper

NM_001290208.3

p.T133R

c.398C>G

2 papers

NM_001290208.3

p.T133insFs

c.398_399insAA

2 papers

NM_001290208.3

p.G131E

c.392G>A

1 paper

NM_001290208.3

p.V128V

c.384T>G

1 paper

NM_001290208.3

p.R127_V128delins

c.380_384delinsCAGTG

4 papers

NM_001290208.3

p.R127T

c.380G>C

2 papers

NM_001290208.3

p.T124fs

c.370_371fs