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.G719D

c.2156G>A

Surrounding Variants

3 papers

NM_030751.6

p.Y719*

c.2157C>A

4 papers

NM_030751.6

p.Y719*

c.2157C>G

1 paper

NM_001174096.2

p.L711F

c.2131C>T

1 paper

NM_030751.6

p.L708L

c.2124A>C

3 papers

NM_030751.6

p.E728*

c.2182G>T

1 paper

NM_030751.6

p.E728D

c.2184A>C

1 paper

NM_030751.6

p.E728D

c.2184A>T

3 papers

NM_001174096.2

p.V733I

c.2197G>A

1 paper

NM_030751.6

p.E733K

c.2197G>A

1 paper

NM_001174096.2

p.G698V

c.2093G>T

3 papers

NM_030751.6

p.N696S

c.2087A>G

1 paper

NM_001174096.2

p.N697_S699del3

c.2089_2096del9