Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L369delFs

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
2 papers
NM_014795.4
p.L369delFs
c.1106delA
Surrounding Variants
7 papers
NM_014795.4
p.L369*
c.1106T>G
7 papers
NM_014795.4
p.L369*
c.1106T>A
3 papers
NM_014795.4
p.Q368*
c.1102C>T
2 papers
NM_014795.4
p.L369_K372Fs
c.1106_1115delinsAGFs
1 paper
NM_014795.4
p.K372fs
c.1114_1115fs
1 paper
NM_014795.4
p.K372delFs
c.1115delT
1 paper
NM_014795.4
p.L373M
c.1117T>A
2 papers
NM_014795.4
p.L373fs
c.1117_1118fs
1 paper
NM_014795.4
p.L373delFs
c.1118delA
1 paper
NM_014795.4
p.A365fs
c.1093_1094fs
3 papers
NM_014795.4
p.E374*
c.1120G>T
1 paper
NM_014795.4
p.S364insFs
c.1091_1092dupCA
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