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.S382P

c.1144T>C

Surrounding Variants

1 paper

NM_001379286.1

p.E387K

c.1159G>A

1 paper

NM_001271620.2

p.E319D

c.957G>T

1 paper

NM_001271620.2

p.E319D

c.957G>C

1 paper

NM_001379286.1

p.S374S

c.1122C>T

4 papers

NM_015069.5

p.S382P

c.1144T>C

1 paper

NM_001379286.1

p.P398S

c.1192C>T

2 papers

NM_001379286.1

p.G401R

c.1201G>C

2 papers

NM_001379286.1

p.G401R

c.1201G>A

1 paper

NM_001379286.1

p.W412*

c.1235G>A

1 paper

NM_001379286.1

p.W412*

c.1236G>A

1 paper

NM_001379286.1

p.V416L

c.1246G>C

1 paper

NM_015069.5

p.R417W

c.1249C>T