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

1–12 of 664 variants

18 papers

NM_001290208.3

p.K840*

c.2518A>T

16 papers

NM_001290208.3

p.C649*

c.1947T>A

15 papers

NM_001290208.3

p.R350C

c.1048C>T

15 papers

NM_001290208.3

p.R667S

c.2001A>T

15 papers

NM_001290208.3

p.R667S

c.2001A>C

14 papers

NM_001290208.3

p.V255G

c.764T>G

14 papers

NM_001290208.3

p.R658C

c.1972C>T

14 papers

NM_001290208.3

p.P702S

c.2104C>T

14 papers

NM_001290208.3

p.L829P

c.2486T>C

13 papers

NM_001290208.3

p.F348V

c.1042T>G

13 papers

NM_001290208.3

p.K672R

c.2015A>G

13 papers

NM_001290208.3

p.T775M

c.2324C>T