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.L439*

c.1316T>G

Surrounding Variants

1 paper

NM_014795.4

p.L439*

c.1316T>A

1 paper

NM_014795.4

p.L439fs

c.1315_1316fs

1 paper

NM_014795.4

p.H438delFs

c.1313delT

1 paper

NM_014795.4

p.H438N

c.1312C>A

2 papers

NM_014795.4

p.H438fs

c.1312_1313fs

1 paper

NM_014795.4

p.L439_V441delFs

c.1317_1321del5

1 paper

NM_014795.4

p.Q437*

c.1309C>T

1 paper

NM_014795.4

p.Q437K

c.1309C>A

1 paper

NM_014795.4

p.M436V

c.1306A>G

1 paper

NM_014795.4

p.M443fs

c.1327_1328fs

1 paper

NM_014795.4

p.M443V

c.1327A>G

1 paper

NM_014795.4

p.G442delFs

c.1326delC