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.N847K

c.2541C>A

Surrounding Variants

1 paper

NM_014795.4

p.N847K

c.2541C>G

1 paper

NM_014795.4

p.S848insFs

c.2543_2544insT

1 paper

NM_014795.4

p.D845Y

c.2533G>T

2 papers

NM_014795.4

p.L844*

c.2531T>G

2 papers

NM_014795.4

p.L844*

c.2531T>A

1 paper

NM_014795.4

p.S852L

c.2555C>T

5 papers

NM_014795.4

p.S852*

c.2555C>G

5 papers

NM_014795.4

p.S852*

c.2555C>A

1 paper

NM_014795.4

p.E854*

c.2560G>T

1 paper

NM_014795.4

p.S840I

c.2519G>T

2 papers

NM_014795.4

p.N855fs

c.2563_2564fs

1 paper

NM_014795.4

p.N855_S856insA

c.2563_2567ins3