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.H600Q

c.1800T>A

Surrounding Variants

1 paper

NM_007137.5

p.H600Q

c.1800T>G

1 paper

NM_007137.5

p.R574I

c.1721G>T

1 paper

NM_007137.5

p.P637delFs

c.1910delC

1 paper

NM_007137.5

p.P637fs

c.1909_1910fs

1 paper

NM_007137.5

p.E551G

c.1652A>G

1 paper

NM_007137.5

p.G550R

c.1648G>A

1 paper

NM_007137.5

p.H660D

c.1978C>G

1 paper

NM_007137.5

p.N540T

c.1619A>C

1 paper

NM_007137.5

p.T521A

c.1561A>G

2 papers

NM_007137.5

p.I499V

c.1495A>G

1 paper

NM_007137.5

p.Q486*

c.1456C>T

1 paper

NM_007137.5

p.Q433*

c.1297C>T