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

1–12 of 47 variants

4 papers

NM_007137.5

p.S179N

c.536G>A

2 papers

NM_007137.5

p.A3V

c.8C>T

2 papers

NM_007137.5

p.N157S

c.470A>G

2 papers

NM_007137.5

p.S185L

c.554C>T

2 papers

NM_007137.5

p.I499V

c.1495A>G

1 paper

NM_007137.5

p.D6D

c.18C>T

1 paper

NM_007137.5

p.Q9*

c.25C>T

1 paper

NM_007137.5

p.R44C

c.130C>T

1 paper

NM_007137.5

p.S55C

c.163A>T

1 paper

NM_007137.5

p.L73M

c.217T>A

1 paper

NM_007137.5

p.A86D

c.257C>A

1 paper

NM_007137.5

p.H88R

c.263A>G