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

4 papers

NM_001174096.2

p.C7*

c.21T>A

Surrounding Variants

1 paper

NM_001174096.2

p.C7insFs

c.20_21insT

2 papers

NM_001174096.2

p.K8R

c.23A>G

1 paper

NM_001174096.2

p.R6delins

c.16delinsGGCCGGCCGG

1 paper

NM_001174096.2

p.P5P

c.15C>A

1 paper

NM_001174096.2

p.P5H

c.14C>A

2 papers

NM_001174096.2

p.P5A

c.13C>G

1 paper

NM_001174096.2

p.P5S

c.13C>T

7 papers

NM_001174096.2

p.Q12*

c.34C>T

1 paper

NM_001174096.2

p.A2A

c.6G>A

1 paper

NM_001174096.2

p.Q12H

c.36G>C

1 paper

NM_001174096.2

p.Q12H

c.36G>T

1 paper

NM_001174096.2

p.M1I

c.3G>A