Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R302*

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
15 papers
NM_014795.4
p.R302*
c.904C>T
NM_001171653.2
p.R278*
c.832C>T
Surrounding Variants
3 papers
NM_014795.4
p.R302Q
c.905G>A
9 papers
NM_014795.4
p.L301delFs
c.901delG
4 papers
NM_014795.4
p.L301fs
c.901_902fs
3 papers
NM_014795.4
p.K298_H300del3
c.892_899del9
3 papers
NM_014795.4
p.H300R
c.899A>G
1 paper
NM_014795.4
p.H300P
c.899A>C
1 paper
NM_014795.4
p.H300Y
c.898C>T
2 papers
NM_014795.4
p.H304fs
c.910_911fs
1 paper
NM_014795.4
p.S305I
c.914G>T
1 paper
NM_014795.4
p.G306Splc
c.916+5G>T
1 paper
NM_014795.4
p.G306Splc
c.916+6T>G
5 papers
NM_014795.4
p.Y293*
c.879T>G
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