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_001174093.2

p.S761fs

c.2281_2282fs

Surrounding Variants

1 paper

NM_001174093.2

p.S761_C762delFs

c.2282_2285del4

1 paper

NM_001174096.2

p.D781A

c.2342A>C

1 paper

NM_001174094.2

p.Q761_K762delFs

c.2282_2285del4

1 paper

NM_001128128.3

p.P761_Q762delFs

c.2282_2285del4

2 papers

NM_030751.6

p.E776fs

c.2326_2327fs

4 papers

NM_001174096.2

p.K775insFs

c.2324dupA

1 paper

NM_001174096.2

p.A774V

c.2321C>T

2 papers

NM_030751.6

p.C772*

c.2316C>A

NM_001174096.2

p.C773*

c.2319C>A

1 paper

NM_001174096.2

p.E766A

c.2297A>C

1 paper

NM_001174096.2

p.E766K

c.2296G>A

1 paper

NM_001174096.2

p.P800S

c.2398C>T

1 paper

NM_030751.6

p.Y761_S762delFs

c.2282_2285del4