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

6 papers

NM_001290208.3

p.V286I

c.856G>A

Surrounding Variants

7 papers

NM_001290208.3

p.Y283C

c.848A>G

10 papers

NM_001290208.3

p.Y283H

c.847T>C

1 paper

NM_001290208.3

p.P282A

c.844C>G

1 paper

NM_001290208.3

p.P291R

c.872C>G

1 paper

NM_001290208.3

p.E280A

c.839A>C

7 papers

NM_001290208.3

p.I293V

c.877A>G

1 paper

NM_001290208.3

p.T278I

c.833C>T

3 papers

NM_001290208.3

p.Q275Q

c.825G>A

1 paper

NM_001290208.3

p.Q275*

c.823C>T

1 paper

NM_001290208.3

p.Q274H

c.822G>T

1 paper

NM_001290208.3

p.Q274H

c.822G>C

3 papers

NM_001290208.3

p.H273_Q274delFs

c.817_820del4