Varaico: Literature-Extracted Genetic Variants

Gene:ZHX3
Variant:p.R550delFs

ZHX3

54 papers

RefSeq Summary

This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zin...

Pfam Domains

zf_C2H2_ZHXaa 105–157UCSCZinc-fingers and homeoboxes C2H2 finger domain
Homeodomainaa 312–359UCSCHomeodomain
Homeodomainaa 497–551UCSCHomeodomain
Homeodomainaa 614–668UCSCHomeodomain
Homezaa 844–893UCSCHomeodomain leucine-zipper encoding, Homez

Gene Aliases

HGNC Name

zinc fingers and homeoboxes 3

HGNC Previous Symbol

TIX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001384317.1
p.R550delFs
c.1648delG
Surrounding Variants
1 paper
NM_001384317.1
p.R550fs
c.1648_1649fs
1 paper
NM_001384317.1
p.R550fs
c.1648_1649fs
1 paper
NM_001384317.1
p.R550W
c.1648C>T
1 paper
NM_001384317.1
p.E523K
c.1567G>A
1 paper
NM_001384317.1
p.Q505H
c.1515G>T
1 paper
NM_001384317.1
p.Q505H
c.1515G>C
1 paper
NM_001384317.1
p.H503P
c.1508A>C
2 papers
NM_001384317.1
p.R602L
c.1805G>T
1 paper
NM_001384317.1
p.A620G
c.1859C>G
1 paper
NM_001384317.1
p.P621S
c.1861C>T
1 paper
NM_001384317.1
p.R625T
c.1874G>C
1 paper
NM_001384317.1
p.V473fs
c.1417_1418fs
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