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.H200Y

c.598C>T

Surrounding Variants

1 paper

NM_001290208.3

p.H199D

c.595C>G

1 paper

NM_001290208.3

p.K201Q

c.601A>C

1 paper

NM_001290208.3

p.H200_K201del1

c.600_602delTTG

1 paper

NM_001290208.3

p.I202F

c.604A>T

1 paper

NM_001290208.3

p.L205R

c.614T>G

1 paper

NM_001290208.3

p.L206L

c.616C>T

8 papers

NM_001290208.3

p.L206V

c.616C>G

1 paper

NM_001290208.3

p.L206M

c.616C>A

1 paper

NM_001290208.3

p.H193Q

c.579T>G

1 paper

NM_001290208.3

p.H193Q

c.579T>A

8 papers

NM_001290208.3

p.H192R

c.575A>G

2 papers

NM_001290208.3

p.H192Y

c.574C>T