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.A829V

c.2486C>T

Surrounding Variants

1 paper

NM_001174095.2

p.A761_L762delFs

c.2282_2285del4

1 paper

NM_001174096.2

p.P825Q

c.2474C>A

1 paper

NM_001174096.2

p.P825L

c.2474C>T

1 paper

NM_001174096.2

p.K834M

c.2501A>T

1 paper

NM_030751.6

p.A818V

c.2453C>T

1 paper

NM_001174096.2

p.I839S

c.2516T>G

10 papers

NM_001174096.2

p.Q841P

c.2522A>C

NM_030751.6

p.Q840P

c.2519A>C

1 paper

NM_001174096.2

p.Q841H

c.2523G>C

1 paper

NM_001174096.2

p.Q841H

c.2523G>T

3 papers

NM_030751.6

p.Q810P

c.2429A>C

2 papers

NM_001323674.2

p.T774M

c.2321C>T

NM_001174096.2

p.T849M

c.2546C>T

1 paper

NM_001174096.2

p.T807A

c.2419A>G