Varaico: Literature-Extracted Genetic Variants

ZNF81

46 papers

RefSeq Summary

This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-...

Pfam Domains

KRABaa 20–61UCSCKRAB box

zf-C2H2aa 330–352UCSCZinc finger, C2H2 type

zf-C2H2aa 358–380UCSCZinc finger, C2H2 type

zf-C2H2aa 386–408UCSCZinc finger, C2H2 type

zf-C2H2aa 414–436UCSCZinc finger, C2H2 type

zf-C2H2aa 442–464UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 81

HGNC Previous Symbol

MRX45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007137.5

p.A86D

c.257C>A

Surrounding Variants

1 paper

NM_007137.5

p.H88R

c.263A>G

1 paper

NM_007137.5

p.L73M

c.217T>A

1 paper

NM_007137.5

p.S55C

c.163A>T

1 paper

NM_007137.5

p.R44C

c.130C>T