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.G265Splc

c.794-1G>A

Surrounding Variants

1 paper

NM_001174096.2

p.E266K

c.796G>A

1 paper

NM_001174096.2

p.G265Splc

c.794-7T>G

1 paper

NM_001174093.2

p.P247R

c.740C>G

1 paper

NM_001174096.2

p.Y269C

c.806A>G

1 paper

NM_001174096.2

p.K275T

c.824A>C

1 paper

NM_001174096.2

p.R277C

c.829C>T

1 paper

NM_001174096.2

p.F278_S281del4

c.832_842del12

1 paper

NM_001174096.2

p.Y284Y

c.852T>C

2 papers

NM_001128128.3

p.S268T

c.803G>C

1 paper

NM_001174096.2

p.S286*

c.857C>G

1 paper

NM_001174096.2

p.C293_I297del0

c.878_889del12

2 papers

NM_001174096.2

p.R302*

c.904C>T

NM_030751.6

p.R301*

c.901C>T