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.S819*

c.2456C>G

Surrounding Variants

3 papers

NM_014795.4

p.S819*

c.2456C>A

1 paper

NM_014795.4

p.L820V

c.2458T>G

6 papers

NM_014795.4

p.L818insFs

c.2453_2454insT

1 paper

NM_014795.4

p.L818fs

c.2452_2453fs

1 paper

NM_014795.4

p.P815R

c.2444C>G

1 paper

NM_014795.4

p.P815H

c.2444C>A

1 paper

NM_014795.4

p.P815T

c.2443C>A

1 paper

NM_014795.4

p.M824_K825delFs

c.2471_2475del5

3 papers

NM_014795.4

p.Q812*

c.2434C>T

1 paper

NM_014795.4

p.P827S

c.2479C>T

1 paper

NM_014795.4

p.M824_K825delFs

c.2472_2475del4

1 paper

NM_014795.4

p.S829I

c.2486G>T