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_001379286.1

p.A209V

c.626C>T

Surrounding Variants

1 paper

NM_001379286.1

p.E208G

c.623A>G

1 paper

NM_001379286.1

p.C204Y

c.611G>A

1 paper

NM_001379286.1

p.H203Q

c.609C>G

1 paper

NM_001379286.1

p.K201*

c.601A>T

1 paper

NM_001379286.1

p.L195R

c.584T>G

1 paper

NM_001379286.1

p.K186N

c.558G>T

1 paper

NM_001379286.1

p.K186N

c.558G>C

1 paper

NM_001379286.1

p.T233I

c.698C>T

1 paper

NM_001379286.1

p.C176F

c.527G>T

1 paper

NM_001379286.1

p.Q246H

c.738G>T

1 paper

NM_015069.5

p.H250delFs

c.748_749delTG

1 paper

NM_001379286.1

p.K264*

c.790A>T