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.N1056fs

c.3166_3167fs

Surrounding Variants

1 paper

NM_015069.5

p.N1056fs

c.3166_3167fs

1 paper

NM_001379286.1

p.L1068M

c.3202C>A

1 paper

NM_015069.5

p.Y1064C

c.3191A>G

1 paper

NM_015069.5

p.A1047V

c.3140C>T

1 paper

NM_015069.5

p.A1067fs

c.3199_3200fs

1 paper

NM_015069.5

p.K1071Q

c.3211A>C

1 paper

NM_001379286.1

p.E1042A

c.3125A>C

1 paper

NM_015069.5

p.V1084I

c.3250G>A

2 papers

NM_001379286.1

p.G1094R

c.3280G>A

1 paper

NM_001379286.1

p.V1031delFs

c.3092delA

1 paper

NM_001271620.2

p.G1030S

c.3088G>A

1 paper

NM_001379286.1

p.R1029R

c.3087C>T