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.A500_T501delFs

c.1498_1501del4

Surrounding Variants

1 paper

NM_030751.6

p.V498I

c.1492G>A

3 papers

NM_030751.6

p.T500_N501delFs

c.1498_1501del4

NM_001174096.2

p.T501_N502delFs

c.1501_1504del4

4 papers

NM_030751.6

p.E495fs

c.1483_1484fs

1 paper

NM_030751.6

p.E495*

c.1483G>T

1 paper

NM_030751.6

p.E495fs

c.1483_1484fs

4 papers

NM_001174096.2

p.K494insFs

c.1482dupA

1 paper

NM_001174096.2

p.L486insFs

c.1456dupC

1 paper

NM_001174096.2

p.T514P

c.1540A>C

1 paper

NM_001174096.2

p.K516N

c.1548G>C

1 paper

NM_001174096.2

p.K516N

c.1548G>T

1 paper

NM_001174096.2

p.L480_E481delFs

c.1440_1441delTG

1 paper

NM_001128128.3

p.Y461Fs

c.1381delinsGACGATFs