Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R695*

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
48 papers
NM_014795.4
p.R695*
c.2083C>T
Surrounding Variants
1 paper
NM_014795.4
p.R695G
c.2083C>G
1 paper
NM_014795.4
p.R695fs
c.2083_2084fs
2 papers
NM_014795.4
p.R695Q
c.2084G>A
1 paper
NM_014795.4
p.R695Fs
c.2083_2085delinsGGFs
3 papers
NM_014795.4
p.Q694*
c.2080C>T
2 papers
NM_014795.4
p.K696fs
c.2086_2087fs
1 paper
NM_014795.4
p.F692delFs
c.2076delA
1 paper
NM_014795.4
p.K696delFs
c.2088delT
2 papers
NM_014795.4
p.K696delFs
c.2087_2088delTT
1 paper
NM_014795.4
p.F692F
c.2076T>C
2 papers
NM_014795.4
p.F692fs
c.2074_2075fs
1 paper
NM_014795.4
p.V697delFs
c.2091delG
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