Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.S64insFs

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.S64insFs
c.190dupA
Surrounding Variants
3 papers
NM_014795.4
p.S64fs
c.190_191fs
3 papers
NM_014795.4
p.A63delFs
c.189delA
1 paper
NM_014795.4
p.T60_S61delFs
c.178_182del5
1 paper
NM_014795.4
p.E59_S61delFs
c.175_182del8
1 paper
NM_014795.4
p.N67fs
c.199_200fs
1 paper
NM_014795.4
p.P66delFs
c.198delG
1 paper
NM_014795.4
p.H68N
c.202C>A
2 papers
NM_014795.4
p.T60M
c.179C>T
3 papers
NM_014795.4
p.T60fs
c.178_179fs
1 paper
NM_014795.4
p.E59K
c.175G>A
1 paper
NM_014795.4
p.S71P
c.211T>C
1 paper
NM_014795.4
p.D57H
c.169G>C
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