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.D898E

c.2694C>A

Surrounding Variants

2 papers

NM_001290208.3

p.D898D

c.2694C>T

2 papers

NM_001290208.3

p.D898E

c.2694C>G

6 papers

NM_001290208.3

p.V899I

c.2695G>A

1 paper

NM_001290208.3

p.D898_V899delins

c.2694_2695delinsTA

3 papers

NM_001290208.3

p.E901Q

c.2701G>C

8 papers

NM_001290208.3

p.E901D

c.2703G>T

8 papers

NM_001290208.3

p.E901D

c.2703G>C

6 papers

NM_001290208.3

p.V905A

c.2714T>C

2 papers

NM_001290208.3

p.V905V

c.2715G>A

1 paper

NM_001290208.3

p.H888Y

c.2662C>T

3 papers

NM_001290208.3

p.S911fs

c.2731_2732fs

8 papers

NM_001290208.3

p.S911F

c.2732C>T