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.E1177K

c.3529G>A

Surrounding Variants

1 paper

NM_014795.4

p.E1177fs

c.3529_3530fs

2 papers

NM_014795.4

p.E1177delFs

c.3529delC

1 paper

NM_014795.4

p.T1178fs

c.3532_3533fs

2 papers

NM_014795.4

p.T1178delFs

c.3533delG

2 papers

NM_014795.4

p.I1179T

c.3536T>C

1 paper

NM_014795.4

p.T1174_T1178del5

c.3520_3533del15

1 paper

NM_014795.4

p.M1172_D1173del2

c.3514_3518del6

1 paper

NM_014795.4

p.R1180G

c.3538C>G

1 paper

NM_014795.4

p.N1169_K1170del2

c.3505_3509del6

1 paper

NM_014795.4

p.E1183K

c.3547G>A

1 paper

NM_014795.4

p.K1170R

c.3509A>G

1 paper

NM_014795.4

p.S1167fs

c.3499_3500fs