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.T21I

c.62C>T

Surrounding Variants

1 paper

NM_001174096.2

p.V20V

c.60T>C

1 paper

NM_001174096.2

p.V20D

c.59T>A

1 paper

NM_001174096.2

p.V20A

c.59T>C

1 paper

NM_001174096.2

p.Y23Y

c.69T>C

1 paper

NM_001174096.2

p.T25A

c.73A>G

1 paper

NM_001174096.2

p.T25S

c.74C>G

1 paper

NM_001174096.2

p.V26insFs

c.76dupG

1 paper

NM_001174096.2

p.V26fs

c.76_77fs

1 paper

NM_001174096.2

p.V27L

c.79G>T

4 papers

NM_001174096.2

p.D34G

c.101A>G

1 paper

NM_001174096.2

p.D34V

c.101A>T

1 paper

NM_001174096.2

p.K38delFs

c.112delA