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

13 papers

NM_001290209.3

p.S199*

c.596C>A

NM_001290208.3

p.S249*

c.746C>A

Surrounding Variants

4 papers

NM_001290208.3

p.S249L

c.746C>T

13 papers

NM_001290209.3

p.S199*

c.596C>G

NM_001290208.3

p.S249*

c.746C>G

1 paper

NM_001290208.3

p.A250T

c.748G>A

2 papers

NM_001290208.3

p.N247K

c.741T>G

2 papers

NM_001290208.3

p.N247K

c.741T>A

10 papers

NM_001290208.3

p.V251I

c.751G>A

1 paper

NM_001290208.3

p.A245V

c.734C>T

14 papers

NM_001290208.3

p.V255G

c.764T>G

1 paper

NM_001290208.3

p.I256_T257delFs

c.767_770del4

9 papers

NM_001290208.3

p.G260R

c.778G>C

9 papers

NM_001290208.3

p.G260R

c.778G>A

1 paper

NM_001290208.3

p.K238R

c.713A>G