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.E524delFs

c.1570delG

Surrounding Variants

1 paper

NM_030751.6

p.E523fs

c.1567_1568fs

1 paper

NM_030751.6

p.E523delFs

c.1569delA

8 papers

NM_030751.6

p.V526insFs

c.1576dupG

NM_001174096.2

p.V527insFs

c.1579dupG

1 paper

NM_030751.6

p.V526delFs

c.1576delG

1 paper

NM_001174096.2

p.G525E

c.1574G>A

1 paper

NM_030751.6

p.G525E

c.1574G>A

2 papers

NM_030751.6

p.V526fs

c.1576_1577fs

5 papers

NM_001174096.2

p.V527fs

c.1579_1580fs

NM_030751.6

p.V526fs

c.1576_1577fs

4 papers

NM_030751.6

p.V526_N527insFs

c.1578_1579insG

1 paper

NM_001174096.2

p.K516N

c.1548G>C

1 paper

NM_001174096.2

p.K516N

c.1548G>T

1 paper

NM_001174096.2

p.C532delFs

c.1596delT