Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.Y232*

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.Y232*
c.696C>A
Surrounding Variants
10 papers
NM_014795.4
p.Y232*
c.696C>G
3 papers
NM_014795.4
p.Y232fs
c.694_695fs
4 papers
NM_014795.4
p.K231insFs
c.691dupA
1 paper
NM_014795.4
p.H234D
c.700C>G
1 paper
NM_014795.4
p.H234N
c.700C>A
1 paper
NM_014795.4
p.K231fs
c.691_692fs
1 paper
NM_014795.4
p.I230insFs
c.690dupC
1 paper
NM_014795.4
p.E235K
c.703G>A
1 paper
NM_014795.4
p.E235fs
c.703_704fs
1 paper
NM_014795.4
p.K236fs
c.706_707fs
1 paper
NM_014795.4
p.E235_K236delFs
c.705_706delTC
1 paper
NM_014795.4
p.E238*
c.712G>T
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