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.G401D

c.1202G>A

Surrounding Variants

1 paper

NM_001174096.2

p.T399_V400insC

c.1195_1199ins3

1 paper

NM_001174096.2

p.T399A

c.1195A>G

1 paper

NM_001174096.2

p.P405T

c.1213C>A

1 paper

NM_001174096.2

p.S407G

c.1219A>G

1 paper

NM_030751.6

p.A393fs

c.1177_1178fs

2 papers

NM_001174096.2

p.V392insFs

c.1176dupG

1 paper

NM_001174096.2

p.G390A

c.1169G>C

1 paper

NM_030751.6

p.A419A

c.1257G>A

1 paper

NM_001174096.2

p.G380G

c.1140C>T

1 paper

NM_001174096.2

p.D422H

c.1264G>C

1 paper

NM_001174096.2

p.G378A

c.1133G>C

2 papers

NM_030751.6

p.F375fs

c.1123_1124fs