Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E484D

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.E484D
c.1452G>T
Surrounding Variants
1 paper
NM_006885.4
p.E484D
c.1452G>C
1 paper
NM_006885.4
p.E485*
c.1453G>T
1 paper
NM_006885.4
p.E486K
c.1456G>A
1 paper
NM_006885.4
p.D488Y
c.1462G>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
1 paper
NM_006885.4
p.E478_D488ins3
c.1434_1463dup30
1 paper
NM_006885.4
p.G490R
c.1468G>C
1 paper
NM_006885.4
p.G490S
c.1468G>A
1 paper
NM_006885.4
p.E479ins2
c.1435_1436ins6
1 paper
NM_006885.4
p.E486_C491del6
c.1456_1472del18
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