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.N398I

c.1193A>T

Surrounding Variants

3 papers

NM_014795.4

p.Y400*

c.1200T>G

3 papers

NM_014795.4

p.Y400*

c.1200T>A

2 papers

NM_014795.4

p.K401fs

c.1201_1202fs

1 paper

NM_014795.4

p.Y400_K401insFs

c.1200_1201dupTA

1 paper

NM_014795.4

p.V402I

c.1204G>A

1 paper

NM_014795.4

p.K391_P394Fs

c.1172_1182delinsTGACTTAAAATTAATGFs

1 paper

NM_014795.4

p.T392_E393delFs

c.1174_1178del5

1 paper

NM_014795.4

p.K391_P394Fs

c.1172_1182delinsTGACTTAAAAFs

1 paper

NM_014795.4

p.T392_E393delFs

c.1175_1178del4

2 papers

NM_014795.4

p.E393insFs

c.1177dupG

3 papers

NM_014795.4

p.E393*

c.1177G>T

1 paper

NM_014795.4

p.T392delFs

c.1176delT