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.S472_Q474delFs

c.1416_1420del5

Surrounding Variants

1 paper

NM_014795.4

p.R473insFs

c.1417dupA

3 papers

NM_014795.4

p.R473delFs

c.1417delT

3 papers

NM_014795.4

p.R473fs

c.1417_1418fs

5 papers

NM_014795.4

p.M476fs

c.1426_1427fs

1 paper

NM_014795.4

p.S472fs

c.1414_1415fs

1 paper

NM_014795.4

p.M476L

c.1426A>T

1 paper

NM_014795.4

p.M476L

c.1426A>C

13 papers

NM_014795.4

p.M476insFs

c.1426_1427insA

1 paper

NM_014795.4

p.Q474_M476ins1

c.1421_1426dup6

4 papers

NM_014795.4

p.M476delFs

c.1426delT

3 papers

NM_014795.4

p.M476fs

c.1426_1427fs

1 paper

NM_014795.4

p.C478*

c.1434C>A