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.E48D

c.144G>C

Surrounding Variants

1 paper

NM_014795.4

p.E48D

c.144G>T

1 paper

NM_014795.4

p.E48Q

c.142G>C

1 paper

NM_014795.4

p.A47S

c.139G>T

1 paper

NM_014795.4

p.G51S

c.151G>A

1 paper

NM_014795.4

p.D50_G51delFs

c.150_153del4

1 paper

NM_014795.4

p.K43R

c.128A>G

1 paper

NM_014795.4

p.N54fs

c.160_161fs

3 papers

NM_014795.4

p.P55fs

c.163_164fs

1 paper

NM_014795.4

p.D42Fs

c.125delinsGGAAGFs

1 paper

NM_014795.4

p.E41_D42Fs

c.122_125delinsGGAAGFs

2 papers

NM_014795.4

p.D42insFs

c.124_125insT

1 paper

NM_014795.4

p.P55delFs

c.164delG