Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.L634I

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.L634I
c.1900C>A
Surrounding Variants
2 papers
NM_014795.4
p.A633S
c.1897G>T
5 papers
NM_014795.4
p.N631delFs
c.1892delT
1 paper
NM_014795.4
p.N631fs
c.1891_1892fs
3 papers
NM_014795.4
p.S637*
c.1910C>G
3 papers
NM_014795.4
p.S637*
c.1910C>A
3 papers
NM_014795.4
p.F628delFs
c.1884delA
1 paper
NM_014795.4
p.F628fs
c.1882_1883fs
1 paper
NM_014795.4
p.F628fs
c.1882_1883fs
1 paper
NM_014795.4
p.V627insFs
c.1879dupG
1 paper
NM_014795.4
p.S641fs
c.1921_1922fs
2 papers
NM_014795.4
p.S641delFs
c.1921delA
1 paper
NM_014795.4
p.S641fs
c.1921_1922fs
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