Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.H1041R

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.H1041R
c.3122A>G
Surrounding Variants
1 paper
NM_014795.4
p.H1041delFs
c.3121delG
1 paper
NM_014795.4
p.H1041fs
c.3121_3122fs
1 paper
NM_014795.4
p.I1043fs
c.3127_3128fs
1 paper
NM_014795.4
p.L1042delFs
c.3126delA
1 paper
NM_014795.4
p.L1042_I1043delins
c.3125_3128delinsG
18 papers
NM_014795.4
p.H1038R
c.3113A>G
NM_001171653.2
p.H1014R
c.3041A>G
1 paper
NM_014795.4
p.E1044D
c.3132G>T
1 paper
NM_014795.4
p.E1044D
c.3132G>C
1 paper
NM_014795.4
p.K1037delFs
c.3111delT
7 papers
NM_014795.4
p.H1045R
c.3134A>G
1 paper
NM_014795.4
p.H1045P
c.3134A>C
1 paper
NM_014795.4
p.H1045Q
c.3135C>G
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