Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E1884Q

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.E1884Q
c.5650G>C
Surrounding Variants
1 paper
NM_006885.4
p.E1884*
c.5650G>T
1 paper
NM_006885.4
p.V1881V
c.5643C>T
1 paper
NM_006885.4
p.E1888*
c.5662G>T
1 paper
NM_006885.4
p.E1875*
c.5623G>T
1 paper
NM_006885.4
p.R1893fs
c.5677_5678fs
4 papers
NM_006885.4
p.R1893fs
c.5677_5678fs
2 papers
NM_006885.4
p.R1893delFs
c.5677_5678delCT
1 paper
NM_006885.4
p.E1892_R1893delFs
c.5675_5678del4
1 paper
NM_006885.4
p.H1873H
c.5619C>T
1 paper
NM_006885.4
p.D1894fs
c.5680_5681fs
2 papers
NM_006885.4
p.A1896T
c.5686G>A
1 paper
NM_006885.4
p.Q1869*
c.5605C>T
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