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

1 paper

NM_015069.5

p.Q950P

c.2849A>C

Surrounding Variants

1 paper

NM_015069.5

p.T951M

c.2852C>T

1 paper

NM_001379286.1

p.L957L

c.2869C>T

1 paper

NM_001379286.1

p.L953P

c.2858T>C

1 paper

NM_001379286.1

p.M968_C969delFs

c.2902_2905del4

2 papers

NM_015069.5

p.P913L

c.2738C>T

1 paper

NM_001379286.1

p.C998*

c.2994T>A

1 paper

NM_001379286.1

p.R999C

c.2995C>T

1 paper

NM_015069.5

p.R991fs

c.2971_2972fs

1 paper

NM_001379286.1

p.N911_H912delFs

c.2731_2734del4

1 paper

NM_001379286.1

p.E1009E

c.3027G>A

2 papers

NM_001379286.1

p.H1014Y

c.3040C>T

1 paper

NM_015069.5

p.Q1008H

c.3024G>T