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

2 papers

NM_030751.6

p.C311W

c.933T>G

Surrounding Variants

2 papers

NM_030751.6

p.C311fs

c.931_932fs

1 paper

NM_030751.6

p.C311fs

c.931_932fs

1 paper

NM_030751.6

p.Q310insFs

c.929dupA

1 paper

NM_001174095.2

p.P247R

c.740C>G

1 paper

NM_001174096.2

p.S310insFs

c.929dupC

1 paper

NM_001174096.2

p.K308K

c.924G>A

1 paper

NM_001174096.2

p.S318insFs

c.953_954insAC

1 paper

NM_001174096.2

p.S318insFs

c.953_954insA

1 paper

NM_001174096.2

p.S318S

c.954A>G

1 paper

NM_030751.6

p.A318insFs

c.953_954insA

1 paper

NM_001174096.2

p.R304K

c.911G>A

1 paper

NM_001174096.2

p.R302R

c.906A>G