Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.M491insFs

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
3 papers
NM_014795.4
p.M491insFs
c.1472_1473insA
Surrounding Variants
2 papers
NM_014795.4
p.M491_K492insFs
c.1473_1474insA
2 papers
NM_014795.4
p.M491fs
c.1471_1472fs
3 papers
NM_014795.4
p.Y489*
c.1467T>G
3 papers
NM_014795.4
p.Y489*
c.1467T>A
1 paper
NM_014795.4
p.D493H
c.1477G>C
1 paper
NM_014795.4
p.P494S
c.1480C>T
1 paper
NM_014795.4
p.G488S
c.1462G>A
1 paper
NM_014795.4
p.K485delFs
c.1454delT
7 papers
NM_014795.4
p.Q497*
c.1489C>T
1 paper
NM_014795.4
p.K485fs
c.1453_1454fs
1 paper
NM_014795.4
p.Q497H
c.1491A>T
1 paper
NM_014795.4
p.Q497H
c.1491A>C
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