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.Q451_Q452insFs

c.1353_1354insA

Surrounding Variants

3 papers

NM_001174096.2

p.Q451*

c.1351C>T

NM_030751.6

p.Q450*

c.1348C>T

1 paper

NM_001174096.2

p.Q451delFs

c.1353delA

1 paper

NM_001174096.2

p.Q451P

c.1352A>C

1 paper

NM_001174096.2

p.Q452_G453insFs

c.1356_1357dupAG

1 paper

NM_001174096.2

p.Q452P

c.1355A>C

1 paper

NM_001174096.2

p.P449P

c.1347C>A

1 paper

NM_001174096.2

p.G453R

c.1357G>C

1 paper

NM_030751.6

p.G452_G453insFs

c.1356_1357dupTG

1 paper

NM_030751.6

p.G453fs

c.1357_1358fs

1 paper

NM_001174096.2

p.H455N

c.1363C>A

1 paper

NM_001174096.2

p.I445F

c.1333A>T

1 paper

NM_001174096.2

p.V457D

c.1370T>A