Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Y325*

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
2 papers
NM_014795.4
p.Y325*
c.975C>A
Surrounding Variants
2 papers
NM_014795.4
p.Y325*
c.975C>G
1 paper
NM_014795.4
p.P313_G323del11
c.937_968del33
3 papers
NM_014795.4
p.S327*
c.980C>A
1 paper
NM_014795.4
p.G323V
c.968G>T
1 paper
NM_014795.4
p.G323C
c.967G>T
1 paper
NM_014795.4
p.S330insFs
c.988_989insC
1 paper
NM_014795.4
p.S320fs
c.958_959fs
1 paper
NM_014795.4
p.F319L
c.957C>G
3 papers
NM_014795.4
p.F319insFs
c.956dupT
1 paper
NM_014795.4
p.F319L
c.957C>A
1 paper
NM_014795.4
p.F319L
c.955T>C
1 paper
NM_014795.4
p.R318H
c.953G>A
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