Varaico: Literature-Extracted Genetic Variants

Gene:ZEB2
Variant:p.S380fs

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.S380fs
c.1138_1139fs
Surrounding Variants
1 paper
NM_014795.4
p.L379_S380insFs
c.1135_1138dup4
1 paper
NM_014795.4
p.M381V
c.1141A>G
4 papers
NM_014795.4
p.S380fs
c.1138_1139fs
1 paper
NM_001171653.2
p.K353_M357del5
c.1057_1070del15
1 paper
NM_014795.4
p.S382Y
c.1145C>A
4 papers
NM_014795.4
p.L379_S382delFs
c.1137_1146del10
1 paper
NM_014795.4
p.Q384fs
c.1150_1151fs
5 papers
NM_014795.4
p.Q384*
c.1150C>T
1 paper
NM_014795.4
p.K377T
c.1130A>C
2 papers
NM_014795.4
p.N375_K377delFs
c.1125_1129del5
1 paper
NM_014795.4
p.E383_Q384insFs
c.1147_1150dup4
1 paper
NM_014795.4
p.N375fs
c.1123_1124fs
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