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_030751.6

p.Q678_S679delFs

c.2034_2035delAA

Surrounding Variants

1 paper

NM_030751.6

p.P680fs

c.2038_2039fs

2 papers

NM_001174096.2

p.V689_L690del2

c.2065_2069del6

1 paper

NM_030751.6

p.P687P

c.2061A>C

1 paper

NM_001174096.2

p.V689D

c.2066T>A

2 papers

NM_030751.6

p.L689_P690del2

c.2065_2069del6

1 paper

NM_030751.6

p.L689*

c.2066T>A

1 paper

NM_030751.6

p.L689*

c.2066T>G

1 paper

NM_001174096.2

p.G693E

c.2078G>A

1 paper

NM_001174096.2

p.S694S

c.2082A>T

1 paper

NM_001174096.2

p.N697_S699del3

c.2089_2096del9

3 papers

NM_030751.6

p.N696S

c.2087A>G

1 paper

NM_030751.6

p.N658K

c.1974C>A