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

4 papers

NM_007137.5

p.S179N

c.536G>A

Surrounding Variants

1 paper

NM_007137.5

p.V176delFs

c.527delT

1 paper

NM_007137.5

p.K174I

c.521A>T

1 paper

NM_007137.5

p.K174*

c.520A>T

2 papers

NM_007137.5

p.S185L

c.554C>T

2 papers

NM_007137.5

p.N157S

c.470A>G

1 paper

NM_007137.5

p.H201L

c.602A>T

1 paper

NM_007137.5

p.R152H

c.455G>A

1 paper

NM_007137.5

p.A214insFs

c.641_642insC

1 paper

NM_007137.5

p.H112P

c.335A>C

1 paper

NM_007137.5

p.I105T

c.314T>C

1 paper

NM_007137.5

p.K266E

c.796A>G

1 paper

NM_007137.5

p.A273delFs

c.817_818delGC