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.Y310*

c.930C>A

Surrounding Variants

1 paper

NM_014795.4

p.Y310Y

c.930C>T

5 papers

NM_014795.4

p.Y310*

c.930C>G

1 paper

NM_014795.4

p.P309P

c.927T>C

1 paper

NM_014795.4

p.E311D

c.933G>T

1 paper

NM_014795.4

p.E311D

c.933G>C

1 paper

NM_014795.4

p.E311delFs

c.933delC

1 paper

NM_014795.4

p.C312fs

c.934_935fs

1 paper

NM_014795.4

p.P309fs

c.925_926fs

2 papers

NM_014795.4

p.K308insFs

c.924dupA

8 papers

NM_014795.4

p.K308delFs

c.924delT

4 papers

NM_014795.4

p.C312*

c.936C>A

7 papers

NM_014795.4

p.C312delFs

c.935delC