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

3 papers

NM_014795.4

p.D546fs

c.1636_1637fs

Surrounding Variants

2 papers

NM_014795.4

p.T544_T545insFs

c.1631_1635dup5

2 papers

NM_014795.4

p.S547_R548insG

c.1639_1643ins3

1 paper

NM_014795.4

p.T544fs

c.1630_1631fs

5 papers

NM_014795.4

p.S547*

c.1640C>G

5 papers

NM_014795.4

p.S547*

c.1640C>A

1 paper

NM_014795.4

p.L543F

c.1629G>T

1 paper

NM_014795.4

p.L543F

c.1629G>C

11 papers

NM_014795.4

p.R549*

c.1645A>T

2 papers

NM_014795.4

p.I551delFs

c.1653delG

1 paper

NM_014795.4

p.S552fs

c.1654_1655fs

2 papers

NM_014795.4

p.N553_I554insTG

c.1657_1661ins6

1 paper

NM_014795.4

p.K537_A538ins8

c.1609_1613ins24