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

1–12 of 470 variants

14 papers

NM_001174096.2

p.N78T

c.233A>C

8 papers

NM_001174096.2

p.V640V

c.1920G>T

7 papers

NM_001174096.2

p.Q12*

c.34C>T

7 papers

NM_001174096.2

p.V527insFs

c.1579dupG

7 papers

NM_030751.6

p.Q840P

c.2519A>C

6 papers

NM_001174096.2

p.M1R

c.2T>G

6 papers

NM_030751.6

p.R325*

c.973C>T

5 papers

NM_001174096.2

p.M1V

c.1A>G

4 papers

NM_001174096.2

p.C7*

c.21T>A

4 papers

NM_001174096.2

p.D34G

c.101A>G

4 papers

NM_030751.6

p.Q214*

c.640C>T

4 papers

NM_001174096.2

p.K224delFs

c.672delA