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.Q555E

c.1663C>G

Surrounding Variants

1 paper

NM_030751.6

p.K553R

c.1658A>G

3 papers

NM_030751.6

p.Q557*

c.1669C>T

NM_001174096.2

p.Q558*

c.1672C>T

1 paper

NM_001174096.2

p.Q558R

c.1673A>G

3 papers

NM_001174096.2

p.P559S

c.1675C>T

1 paper

NM_030751.6

p.P559S

c.1675C>T

1 paper

NM_001174096.2

p.P563H

c.1688C>A

1 paper

NM_001174096.2

p.A564_A565delFs

c.1691_1694del4

1 paper

NM_001174096.2

p.A544E

c.1631C>A

1 paper

NM_001174096.2

p.A567V

c.1700C>T

1 paper

NM_030751.6

p.P538fs

c.1612_1613fs

3 papers

NM_030751.6

p.P538delFs

c.1613delC

1 paper

NM_001174096.2

p.C538delFs

c.1613delG