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.M1190V

c.3568A>G

Surrounding Variants

3 papers

NM_014795.4

p.M1190fs

c.3568_3569fs

5 papers

NM_014795.4

p.M1190insFs

c.3568_3569insCC

1 paper

NM_014795.4

p.D1192A

c.3575A>C

1 paper

NM_014795.4

p.G1186V

c.3557G>T

1 paper

NM_014795.4

p.S1194fs

c.3580_3581fs

1 paper

NM_014795.4

p.S1194*

c.3581C>A

1 paper

NM_014795.4

p.S1194delFs

c.3581delG

1 paper

NM_014795.4

p.E1195D

c.3585G>T

1 paper

NM_014795.4

p.E1195D

c.3585G>C

1 paper

NM_014795.4

p.E1183K

c.3547G>A

1 paper

NM_014795.4

p.R1180G

c.3538C>G

1 paper

NM_014795.4

p.E1200G

c.3599A>G