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

14 papers

NM_001174096.2

p.N78T

c.233A>C

Surrounding Variants

1 paper

NM_001174096.2

p.N78S

c.233A>G

1 paper

NM_001174096.2

p.N78H

c.232A>C

2 papers

NM_001174096.2

p.N78D

c.232A>G

1 paper

NM_001174096.2

p.K80*

c.238A>T

3 papers

NM_001174096.2

p.N81S

c.242A>G

2 papers

NM_001174096.2

p.N81N

c.243C>T

1 paper

NM_001174096.2

p.S72S

c.216C>T

1 paper

NM_001174096.2

p.G70R

c.208G>A

1 paper

NM_001174096.2

p.G70R

c.208G>C

1 paper

NM_001174096.2

p.P69T

c.205C>A

1 paper

NM_001174096.2

p.L68V

c.202T>G

1 paper

NM_001174096.2

p.V67A

c.200T>C