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_030751.6

p.G161fs

c.481_482fs

Surrounding Variants

3 papers

NM_030751.6

p.G161Splc

c.482-2A>G

1 paper

NM_001174096.2

p.P164Q

c.491C>A

1 paper

NM_001174096.2

p.D165N

c.493G>A

1 paper

NM_001174096.2

p.L171F

c.511C>T

1 paper

NM_001174096.2

p.C176Y

c.527G>A

2 papers

NM_001174096.2

p.C176F

c.527G>T

1 paper

NM_001174096.2

p.D177H

c.529G>C

1 paper

NM_001174096.2

p.G179_L186insFs

c.535_556dup22

2 papers

NM_001174096.2

p.L186fs

c.556_557fs

1 paper

NM_001174096.2

p.I190S

c.569T>G

1 paper

NM_001174096.2

p.N200T

c.599A>C

1 paper

NM_001174096.2

p.F201F

c.603T>C