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.V761_Y762delFs

c.2282_2285del4

Surrounding Variants

1 paper

NM_030751.6

p.Y761_S762delFs

c.2282_2285del4

1 paper

NM_001174096.2

p.E766K

c.2296G>A

1 paper

NM_001174096.2

p.E766A

c.2297A>C

1 paper

NM_001174096.2

p.S755N

c.2264G>A

1 paper

NM_001174096.2

p.S755delFs

c.2263delA

1 paper

NM_001174096.2

p.I753M

c.2259C>G

2 papers

NM_001174096.2

p.T752A

c.2254A>G

4 papers

NM_001174096.2

p.S751*

c.2252C>A

NM_030751.6

p.S750*

c.2249C>A

3 papers

NM_001174096.2

p.S751*

c.2252C>G

NM_030751.6

p.S750*

c.2249C>G

1 paper

NM_001174096.2

p.R750M

c.2249G>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.L748*

c.2243T>A