Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.G512delFs

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.G512delFs
c.1535delC
Surrounding Variants
1 paper
NM_014795.4
p.G512delFs
c.1534_1535delCC
3 papers
NM_014795.4
p.G512fs
c.1534_1535fs
1 paper
NM_014795.4
p.L513delFs
c.1537delG
1 paper
NM_014795.4
p.G512S
c.1534G>A
1 paper
NM_014795.4
p.L513fs
c.1537_1538fs
1 paper
NM_014795.4
p.P514fs
c.1540_1541fs
1 paper
NM_014795.4
p.P514insFs
c.1540_1541insAC
1 paper
NM_014795.4
p.P514insFs
c.1541_1542insAC
2 papers
NM_014795.4
p.P514fs
c.1540_1541fs
1 paper
NM_014795.4
p.P514delFs
c.1541delG
1 paper
NM_014795.4
p.P509L
c.1526C>T
3 papers
NM_014795.4
p.P514_V516delFs
c.1541_1548del8
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