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.E216*

c.646G>T

Surrounding Variants

1 paper

NM_001174096.2

p.R218H

c.653G>A

4 papers

NM_030751.6

p.Q214*

c.640C>T

1 paper

NM_001174096.2

p.H219Q

c.657C>A

1 paper

NM_001174096.2

p.R213*

c.637A>T

1 paper

NM_030751.6

p.H222Y

c.664C>T

1 paper

NM_001174096.2

p.A211P

c.631G>C

1 paper

NM_030751.6

p.H222H

c.666T>C

4 papers

NM_001174096.2

p.K224delFs

c.672delA

1 paper

NM_030751.6

p.F209fs

c.625_626fs

2 papers

NM_030751.6

p.F209delFs

c.627delT

2 papers

NM_001174096.2

p.T209delFs

c.627delC

2 papers

NM_001174096.2

p.Y208*

c.624C>A