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.K748_M749del1

c.2243_2245delTCT

Surrounding Variants

1 paper

NM_015069.5

p.K748_M749del2

c.2242_2246del6

1 paper

NM_015069.5

p.R751C

c.2251C>T

1 paper

NM_001379286.1

p.R759L

c.2276G>T

1 paper

NM_015069.5

p.R760C

c.2278C>T

1 paper

NM_001379286.1

p.H746R

c.2237A>G

1 paper

NM_015069.5

p.K761*

c.2281A>T

1 paper

NM_001379286.1

p.K740K

c.2220G>A

1 paper

NM_001379286.1

p.I792I

c.2376C>T

1 paper

NM_001379286.1

p.S697_H699del3

c.2089_2096del9

1 paper

NM_001379286.1

p.Y693*

c.2079C>G

1 paper

NM_001379286.1

p.Y693*

c.2079C>A

1 paper

NM_015069.5

p.D672fs

c.2014_2015fs