Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.R222C

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.R222C
c.664C>T
Surrounding Variants
1 paper
NM_014795.4
p.K221T
c.662A>C
2 papers
NM_014795.4
p.Y220*
c.660C>G
2 papers
NM_014795.4
p.Y220*
c.660C>A
2 papers
NM_014795.4
p.Y215_Y220delFs
c.643_659del17
1 paper
NM_014795.4
p.R218insFs
c.653dupG
2 papers
NM_014795.4
p.G219delFs
c.656delC
4 papers
NM_014795.4
p.G219fs
c.655_656fs
5 papers
NM_014795.4
p.R218_G219insFs
c.654_655ins4
1 paper
NM_014795.4
p.S225*
c.674C>G
1 paper
NM_014795.4
p.S225*
c.674C>A
2 papers
NM_014795.4
p.D217delFs
c.651delG
1 paper
NM_014795.4
p.R218fs
c.652_653fs
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