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

16 papers

NM_001290208.3

p.R350C

c.1048C>T

NM_001290209.3

p.R300C

c.898C>T

Surrounding Variants

1 paper

NM_001290208.3

p.R350H

c.1049G>A

4 papers

NM_001290208.3

p.R349H

c.1046G>A

2 papers

NM_001290208.3

p.R349C

c.1045C>T

13 papers

NM_001290208.3

p.F348V

c.1042T>G

1 paper

NM_001290208.3

p.G345G

c.1035T>A

1 paper

NM_001290208.3

p.E343K

c.1027G>A

5 papers

NM_001290208.3

p.E358Q

c.1072G>C

1 paper

NM_001290208.3

p.C341G

c.1021T>G

1 paper

NM_001290208.3

p.T362T

c.1086A>T

1 paper

NM_001290208.3

p.T362_G363delFs

c.1086_1087delCT

1 paper

NM_001290208.3

p.D364fs

c.1090_1091fs

7 papers

NM_001290208.3

p.G335E

c.1004G>A