Varaico: Literature-Extracted Genetic Variants

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.E557fs

c.1669_1670fs

Surrounding Variants

4 papers

NM_014795.4

p.K556delFs

c.1668delT

2 papers

NM_014795.4

p.K556_E557delFs

c.1667_1670del4

1 paper

NM_014795.4

p.K556fs

c.1666_1667fs

1 paper

NM_014795.4

p.R560C

c.1678C>T

2 papers

NM_014795.4

p.N553_I554insTG

c.1657_1661ins6

1 paper

NM_014795.4

p.S552fs

c.1654_1655fs

2 papers

NM_014795.4

p.I551delFs

c.1653delG

6 papers

NM_014795.4

p.L562*

c.1685T>G

6 papers

NM_014795.4

p.L562*

c.1685T>A

1 paper

NM_014795.4

p.T561_I563insFs

c.1683_1689dup7

1 paper

NM_014795.4

p.D564fs

c.1690_1691fs

11 papers

NM_014795.4

p.R549*

c.1645A>T