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.N1109K

c.3327C>G

Surrounding Variants

1 paper

NM_014795.4

p.N1109K

c.3327C>A

4 papers

NM_014795.4

p.Y1112fs

c.3334_3335fs

1 paper

NM_014795.4

p.Y1112delFs

c.3335delT

1 paper

NM_014795.4

p.Y1112_L1113delFs

c.3335_3338del4

1 paper

NM_014795.4

p.P1103H

c.3308C>A

1 paper

NM_014795.4

p.T1117A

c.3349A>G

1 paper

NM_014795.4

p.P1118fs

c.3352_3353fs

1 paper

NM_014795.4

p.P1118H

c.3353C>A

6 papers

NM_014795.4

p.P1118delFs

c.3353delG

2 papers

NM_014795.4

p.Q1119E

c.3355C>G

9 papers

NM_014795.4

p.Q1119R

c.3356A>G

1 paper

NM_014795.4

p.Q1119H

c.3357G>T