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.N534I

c.1601A>T

Surrounding Variants

1 paper

NM_014795.4

p.N534S

c.1601A>G

1 paper

NM_014795.4

p.V533A

c.1598T>C

4 papers

NM_014795.4

p.V533L

c.1597G>C

1 paper

NM_014795.4

p.K537_A538ins8

c.1609_1613ins24

2 papers

NM_014795.4

p.L530insFs

c.1588_1589insC

1 paper

NM_014795.4

p.T529fs

c.1585_1586fs

1 paper

NM_014795.4

p.T529delFs

c.1586delG

1 paper

NM_014795.4

p.Y528*

c.1584T>G

1 paper

NM_014795.4

p.Y528*

c.1584T>A

1 paper

NM_014795.4

p.D527delFs

c.1581delG

2 papers

NM_014795.4

p.I526_D527Fs

c.1578_1579delinsAFs

4 papers

NM_014795.4

p.D527fs

c.1579_1580fs