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

5 papers

NM_014795.4

p.Q269_H270Splc

c.808-1G>T

Surrounding Variants

1 paper

NM_014795.4

p.Q269_H270Splc

c.808-1G>A

1 paper

NM_014795.4

p.Q269_H270Splc

c.808-2A>G

1 paper

NM_014795.4

p.Q269_H270Splc

c.808-4A>G

3 papers

NM_014795.4

p.Q271*

c.811C>T

3 papers

NM_014795.4

p.L273delFs

c.817delG

5 papers

NM_014795.4

p.T274I

c.821C>T

3 papers

NM_014795.4

p.Q275*

c.823C>T

1 paper

NM_014795.4

p.G278S

c.832G>A

1 paper

NM_014795.4

p.R280C

c.838C>T

2 papers

NM_014795.4

p.R280fs

c.838_839fs

3 papers

NM_014795.4

p.R280insFs

c.839_840insC

1 paper

NM_001171653.2

p.K257delFs

c.770_771delCT