Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.N417fs

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.N417fs
c.1249_1250fs
Surrounding Variants
1 paper
NM_014795.4
p.G419fs
c.1255_1256fs
1 paper
NM_014795.4
p.N417_G419delFs
c.1249_1256del8
1 paper
NM_014795.4
p.P414T
c.1240C>A
2 papers
NM_014795.4
p.G419delFs
c.1257delC
1 paper
NM_014795.4
p.P414fs
c.1240_1241fs
1 paper
NM_014795.4
p.L420R
c.1259T>G
1 paper
NM_014795.4
p.G421R
c.1261G>C
1 paper
NM_014795.4
p.G421R
c.1261G>A
1 paper
NM_014795.4
p.G421fs
c.1261_1262fs
3 papers
NM_014795.4
p.S424fs
c.1270_1271fs
1 paper
NM_014795.4
p.F409fs
c.1225_1226fs
1 paper
NM_014795.4
p.G408delFs
c.1224delC
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