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.Q470K

c.1408C>A

Surrounding Variants

1 paper

NM_001290208.3

p.H469_Q470delins

c.1407_1408delinsCA

1 paper

NM_001290208.3

p.R471G

c.1411A>G

3 papers

NM_001290208.3

p.L468I

c.1402T>A

1 paper

NM_001290208.3

p.R467S

c.1401G>T

1 paper

NM_001290208.3

p.R467S

c.1401G>C

1 paper

NM_001290208.3

p.R467T

c.1400G>C

1 paper

NM_001290208.3

p.R467K

c.1400G>A

1 paper

NM_001290208.3

p.R467G

c.1399A>G

1 paper

NM_001290208.3

p.L466_R467delins

c.1398_1399delinsTG

1 paper

NM_001290208.3

p.T474fs

c.1420_1421fs

9 papers

NM_001290208.3

p.T474I

c.1421C>T

1 paper

NM_001290208.3

p.T474Fs

c.1421delinsTTFs