Varaico: Literature-Extracted Genetic Variants

ZEB1

309 papers

RefSeq Summary

This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior...

Pfam Domains

zf-Di19aa 168–224UCSCDrought induced 19 protein (Di19), zinc-binding

zf-C2H2aa 240–262UCSCZinc finger, C2H2 type

zf-C2H2aa 268–289UCSCZinc finger, C2H2 type

zf-C2H2aa 932–954UCSCZinc finger, C2H2 type

zf-C2H2aa 960–981UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger E-box binding homeobox 1

HGNC Previous Symbols

TCF8; PPCD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001174096.2

p.N19D

c.55A>G

Surrounding Variants

1 paper

NM_001174096.2

p.N18delins

c.53delinsGGGAGGGGTGGAGGCGGAGGGGTGGGGGGGAAGG

2 papers

NM_001174096.2

p.N19N

c.57C>T

1 paper

NM_001174096.2

p.V20L

c.58G>C

1 paper

NM_001174096.2

p.V20A

c.59T>C

1 paper

NM_001174096.2

p.R17H

c.50G>A

1 paper

NM_001174096.2

p.R16delins

c.46delinsGGGAGGG

1 paper

NM_001174096.2

p.P15_R16insFs

c.45_46insT

1 paper

NM_001174096.2

p.P15T

c.43C>A

1 paper

NM_001174096.2

p.N14S

c.41A>G

1 paper

NM_001174096.2

p.Q12H

c.36G>C

1 paper

NM_001174096.2

p.Q12H

c.36G>T

7 papers

NM_001174096.2

p.Q12*

c.34C>T