Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.K653R

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.K653R
c.1958A>G
Surrounding Variants
6 papers
NM_014795.4
p.Y652*
c.1956C>G
9 papers
NM_014795.4
p.Y652*
c.1956C>A
2 papers
NM_014795.4
p.H655Q
c.1965C>G
1 paper
NM_014795.4
p.H655Q
c.1965C>A
3 papers
NM_014795.4
p.M656fs
c.1966_1967fs
3 papers
NM_014795.4
p.M656delFs
c.1966_1967delAT
3 papers
NM_014795.4
p.I649delFs
c.1946delA
4 papers
NM_014795.4
p.I649fs
c.1945_1946fs
2 papers
NM_014795.4
p.P648delFs
c.1944delG
1 paper
NM_014795.4
p.P648fs
c.1942_1943fs
1 paper
NM_014795.4
p.L659F
c.1975C>T
1 paper
NM_014795.4
p.T646I
c.1937C>T
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