Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.D1146N

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.D1146N
c.3436G>A
Surrounding Variants
4 papers
NM_014795.4
p.E1137_D1146del10
c.3409_3437del30
1 paper
NM_014795.4
p.E1137_K1138insFs
c.3411_3412insAA
1 paper
NM_014795.4
p.Q1154_D1155delFs
c.3460_3463del4
1 paper
NM_014795.4
p.D1157fs
c.3469_3470fs
2 papers
NM_014795.4
p.P1131_G1134delFs
c.3391_3400del10
1 paper
NM_014795.4
p.D1157fs
c.3469_3470fs
1 paper
NM_014795.4
p.D1157delFs
c.3471delG
2 papers
NM_014795.4
p.E1158insFs
c.3473_3474dupAG
1 paper
NM_014795.4
p.E1159fs
c.3475_3476fs
1 paper
NM_014795.4
p.F1160V
c.3478T>G
1 paper
NM_014795.4
p.F1160L
c.3478T>C
1 paper
NM_014795.4
p.P1131fs
c.3391_3392fs
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