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

7 papers

NM_001290208.3

p.C183F

c.548G>T

Surrounding Variants

4 papers

NM_001290208.3

p.C183S

c.548G>C

1 paper

NM_001290208.3

p.C183delins

c.547_548delinsCT

5 papers

NM_001290208.3

p.C183R

c.547T>C

4 papers

NM_001290208.3

p.C183S

c.547T>A

3 papers

NM_001290208.3

p.V182I

c.544G>A

3 papers

NM_001290208.3

p.T186I

c.557C>T

1 paper

NM_001290208.3

p.T186_R187delFs

c.558_559delTG

12 papers

NM_001290208.3

p.G177R

c.529G>C

10 papers

NM_001290208.3

p.G177R

c.529G>A

2 papers

NM_001290208.3

p.H192Y

c.574C>T

8 papers

NM_001290208.3

p.H192R

c.575A>G

1 paper

NM_001290208.3

p.H193Q

c.579T>G