Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.N100del1

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
9 papers
NM_014795.4
p.N100del1
c.298_299delGTT
Surrounding Variants
1 paper
NM_014795.4
p.E101*
c.301G>T
3 papers
NM_014795.4
p.I102F
c.304A>T
1 paper
NM_014795.4
p.N99D
c.295A>G
7 papers
NM_014795.4
p.Q104*
c.310C>T
1 paper
NM_014795.4
p.W97fs
c.289_290fs
5 papers
NM_014795.4
p.W97*
c.291G>A
1 paper
NM_014795.4
p.W97L
c.290G>T
5 papers
NM_014795.4
p.W97*
c.290G>A
1 paper
NM_014795.4
p.W97delFs
c.289delA
1 paper
NM_014795.4
p.Q104insFs
c.312dupA
1 paper
NM_014795.4
p.Q104insFs
c.311_312dupAA
1 paper
NM_014795.4
p.W97fs
c.289_290fs
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