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.W499C

c.1497G>C

Surrounding Variants

1 paper

NM_001290208.3

p.W499C

c.1497G>T

1 paper

NM_001290208.3

p.W499*

c.1497G>A

1 paper

NM_001290208.3

p.W499*

c.1496G>A

5 papers

NM_001290208.3

p.W499R

c.1495T>C

5 papers

NM_001290208.3

p.W499R

c.1495T>A

5 papers

NM_001290208.3

p.H501N

c.1501C>A

3 papers

NM_001290208.3

p.T502I

c.1505C>T

3 papers

NM_001290208.3

p.T502K

c.1505C>A

1 paper

NM_001290208.3

p.T502fs

c.1504_1505fs

1 paper

NM_001290208.3

p.G503W

c.1507G>T

3 papers

NM_001290208.3

p.T502_G503delFs

c.1506_1507delCT

2 papers

NM_001290208.3

p.I496V

c.1486A>G