Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.H599delFs

ZEB2

494 papers

RefSeq Summary

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that...

Pfam Domains

zf-Di19aa 209–269UCSCDrought induced 19 protein (Di19), zinc-binding
zf-C2H2aa 282–304UCSCZinc finger, C2H2 type
zf-C2H2aa 310–331UCSCZinc finger, C2H2 type
zf-C2H2aa 999–1021UCSCZinc finger, C2H2 type
zf-C2H2aa 1055–1076UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger E-box binding homeobox 2

HGNC Previous Symbol

ZFHX1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014795.4
p.H599delFs
c.1795delG
Surrounding Variants
1 paper
NM_014795.4
p.H599insFs
c.1796dupA
1 paper
NM_014795.4
p.Q598*
c.1792C>T
1 paper
NM_014795.4
p.Y602fs
c.1804_1805fs
1 paper
NM_014795.4
p.Y602*
c.1806C>G
1 paper
NM_014795.4
p.Y602*
c.1806C>A
6 papers
NM_014795.4
p.Y602delFs
c.1805delT
3 papers
NM_014795.4
p.P595delFs
c.1784delG
1 paper
NM_014795.4
p.P595L
c.1784C>T
1 paper
NM_014795.4
p.P595fs
c.1783_1784fs
1 paper
NM_014795.4
p.I594fs
c.1780_1781fs
1 paper
NM_014795.4
p.P593delFs
c.1779delG
3 papers
NM_014795.4
p.P591_P593delFs
c.1773_1779del7
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."