Varaico: Literature-Extracted Genetic Variants

ZNF423

122 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fi...

Pfam Domains

zf-C2H2aa 146–168UCSCZinc finger, C2H2 type

zf-C2H2aa 202–224UCSCZinc finger, C2H2 type

zf-C2H2aa 230–252UCSCZinc finger, C2H2 type

zf-C2H2aa 488–511UCSCZinc finger, C2H2 type

zf-C2H2aa 640–662UCSCZinc finger, C2H2 type

zf-C2H2aa 700–723UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 423

HGNC Alias Symbols

KIAA0760; hOAZ; Ebfaz; Zfp104; NPHP14; JBTS19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001379286.1

p.H96fs

c.286_287fs

NM_015069.5

p.H88fs

c.262_263fs

Surrounding Variants

1 paper

NM_015069.5

p.R89G

c.265C>G

1 paper

NM_015069.5

p.R89H

c.266G>A

1 paper

NM_001379286.1

p.T91M

c.272C>T

1 paper

NM_001379286.1

p.D78fs

c.232_233fs

3 papers

NM_015069.5

p.D70fs

c.208_209fs

NM_001379286.1

p.D78fs

c.232_233fs

1 paper

NM_001379286.1

p.E67V

c.200A>T

1 paper

NM_001379286.1

p.D66Y

c.196G>T

1 paper

NM_001379286.1

p.S58G

c.172A>G

1 paper

NM_001379286.1

p.L50_E51delFs

c.150_153del4

1 paper

NM_001379286.1

p.D101Splc

c.301+1612C>G