Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E479ins2

ZFHX3

624 papers

RefSeq Summary

This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-...

Pfam Domains

zf-C2H2_ZFHX3aa 1040–1064UCSCZinc finger homeobox protein 3-like, C2H2 type zinc-finger
zf-C2H2_ZFHX3aa 1040–1064UCSCZinc finger homeobox protein 3-like, C2H2 type zinc-finger
zf-C2H2aa 1596–1620UCSCZinc finger, C2H2 type
zf-C2H2aa 1596–1620UCSCZinc finger, C2H2 type
Homeodomainaa 2146–2202UCSCHomeodomain
Homeodomainaa 2146–2202UCSCHomeodomain

Gene Aliases

HGNC Name

zinc finger homeobox 3

HGNC Previous Symbols

ATBF1; C16orf47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006885.4
p.E479ins2
c.1435_1436ins6
Surrounding Variants
1 paper
NM_006885.4
p.E476E
c.1428G>A
1 paper
NM_006885.4
p.E484D
c.1452G>T
1 paper
NM_006885.4
p.E484D
c.1452G>C
1 paper
NM_006885.4
p.E485*
c.1453G>T
5 papers
NM_006885.4
p.A472E
c.1415C>A
1 paper
NM_006885.4
p.E486K
c.1456G>A
1 paper
NM_006885.4
p.E468_E469del2
c.1402_1406del6
1 paper
NM_006885.4
p.D488Y
c.1462G>T
1 paper
NM_006885.4
p.E470*
c.1408G>T
1 paper
NM_006885.4
p.D488delFs
c.1462delC
1 paper
NM_006885.4
p.D488D
c.1464C>T
1 paper
NM_006885.4
p.E483_D488ins2
c.1449_1463dup15
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