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.L133fs

c.397_398fs

NM_015069.5

p.L125fs

c.373_374fs

Surrounding Variants

1 paper

NM_001379286.1

p.D129V

c.386A>T

1 paper

NM_001379286.1

p.D129Y

c.385G>T

1 paper

NM_015069.5

p.G132V

c.395G>T

1 paper

NM_001379286.1

p.T124M

c.371C>T

1 paper

NM_001379286.1

p.G143G

c.429C>G

1 paper

NM_001379286.1

p.P106_V111del6

c.316_332del18

1 paper

NM_001379286.1

p.F150_K153del4

c.448_458del12

1 paper

NM_001379286.1

p.C176F

c.527G>T

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.L195R

c.584T>G

1 paper

NM_001379286.1

p.K201*

c.601A>T