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

1–12 of 138 variants

4 papers

NM_015069.5

p.S382P

c.1144T>C

3 papers

NM_015069.5

p.D70fs

c.208_209fs

3 papers

NM_001379286.1

p.S382P

c.1144T>C

2 papers

NM_001379286.1

p.D78fs

c.232_233fs

2 papers

NM_001379286.1

p.H96fs

c.286_287fs

2 papers

NM_015069.5

p.H88fs

c.262_263fs

2 papers

NM_001379286.1

p.L133fs

c.397_398fs

2 papers

NM_001379286.1

p.G401R

c.1201G>C

2 papers

NM_001379286.1

p.G401R

c.1201G>A

2 papers

NM_001379286.1

p.G513S

c.1537G>A

2 papers

NM_001379286.1

p.N515fs

c.1543_1544fs

2 papers

NM_001379286.1

p.S607F

c.1820C>T