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.S638delFs

c.1913_1914delCA

Surrounding Variants

2 papers

NM_030751.6

p.S638fs

c.1912_1913fs

2 papers

NM_030751.6

p.S638fs

c.1912_1913fs

1 paper

NM_001174096.2

p.I638delFs

c.1913_1914delTT

8 papers

NM_001174096.2

p.V640V

c.1920G>T

3 papers

NM_001174096.2

p.Q641*

c.1921C>T

NM_030751.6

p.Q640*

c.1918C>T

2 papers

NM_030751.6

p.Q640H

c.1920G>C

2 papers

NM_030751.6

p.Q640H

c.1920G>T

3 papers

NM_030751.6

p.P649A

c.1945C>G

1 paper

NM_001174096.2

p.G651V

c.1952G>T

1 paper

NM_001174096.2

p.L621delFs

c.1862delT

1 paper

NM_030751.6

p.N658K

c.1974C>A

1 paper

NM_030751.6

p.N658K

c.1974C>G