Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L728S

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.L728S
c.2183T>C
Surrounding Variants
2 papers
NM_014795.4
p.L727fs
c.2179_2180fs
3 papers
NM_014795.4
p.L727delFs
c.2180delA
3 papers
NM_014795.4
p.L727delFs
c.2179_2180delAA
6 papers
NM_014795.4
p.S726_L727delFs
c.2177_2180del4
9 papers
NM_014795.4
p.L727*
c.2180T>G
9 papers
NM_014795.4
p.L727*
c.2180T>A
1 paper
NM_014795.4
p.S726delFs
c.2177_2178delAG
4 papers
NM_014795.4
p.L727fs
c.2179_2180fs
1 paper
NM_014795.4
p.S726delFs
c.2176delA
6 papers
NM_014795.4
p.S726fs
c.2176_2177fs
1 paper
NM_001171653.2
p.S707F
c.2120C>T
1 paper
NM_014795.4
p.T723K
c.2168C>A
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