Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.K479_A480delFs

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.K479_A480delFs
c.1437_1440del4
Surrounding Variants
1 paper
NM_014795.4
p.A480insFs
c.1439_1440ins38
1 paper
NM_014795.4
p.K479R
c.1436A>G
1 paper
NM_014795.4
p.C478*
c.1434C>A
2 papers
NM_014795.4
p.S484*
c.1451C>G
2 papers
NM_014795.4
p.S484*
c.1451C>A
1 paper
NM_014795.4
p.K485fs
c.1453_1454fs
1 paper
NM_014795.4
p.D477_S484del8
c.1429_1451del24
1 paper
NM_014795.4
p.K485delFs
c.1454delT
3 papers
NM_014795.4
p.M476fs
c.1426_1427fs
13 papers
NM_014795.4
p.M476insFs
c.1426_1427insA
1 paper
NM_014795.4
p.Q474_M476ins1
c.1421_1426dup6
4 papers
NM_014795.4
p.M476delFs
c.1426delT
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