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.M431I

c.1293G>C

Surrounding Variants

1 paper

NM_007137.5

p.M431I

c.1293G>A

1 paper

NM_007137.5

p.M431I

c.1293G>T

1 paper

NM_007137.5

p.M431delFs

c.1292delT

1 paper

NM_007137.5

p.Q433*

c.1297C>T

1 paper

NM_007137.5

p.R430G

c.1288A>G

1 paper

NM_007137.5

p.K426*

c.1276A>T

1 paper

NM_007137.5

p.K421K

c.1263A>G

1 paper

NM_007137.5

p.A400T

c.1198G>A

1 paper

NM_007137.5

p.S389delFs

c.1165_1166delAG

1 paper

NM_007137.5

p.H380D

c.1138C>G

1 paper

NM_007137.5

p.Q486*

c.1456C>T

2 papers

NM_007137.5

p.I499V

c.1495A>G