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.T474Fs

c.1422delinsTAFs

Surrounding Variants

1 paper

NM_001290208.3

p.T474fs

c.1420_1421fs

1 paper

NM_001290208.3

p.G475W

c.1423G>T

3 papers

NM_001290208.3

p.G475fs

c.1423_1424fs

1 paper

NM_001290208.3

p.H473delFs

c.1417_1418delTG

9 papers

NM_001290208.3

p.T474I

c.1421C>T

1 paper

NM_001290208.3

p.T474Fs

c.1421delinsTTFs

2 papers

NM_001290208.3

p.T474insFs

c.1421_1422insT

1 paper

NM_001290208.3

p.T474fs

c.1420_1421fs

4 papers

NM_001290208.3

p.G475_E476delins

c.1424_1427delinsA

1 paper

NM_001290208.3

p.G475_E476del2

c.1423_1427del6

1 paper

NM_001290208.3

p.R471G

c.1411A>G

1 paper

NM_001290208.3

p.Q470K

c.1408C>A