Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.Q1794_H1795del1

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.Q1794_H1795del1
c.5382_5384delTGC
Surrounding Variants
1 paper
NM_006885.4
p.L1797fs
c.5389_5390fs
1 paper
NM_006885.4
p.F1800L
c.5398T>C
1 paper
NM_006885.4
p.F1800L
c.5400C>G
1 paper
NM_006885.4
p.F1800L
c.5400C>A
1 paper
NM_006885.4
p.A1805S
c.5413G>T
1 paper
NM_006885.4
p.T1786N
c.5357C>A
1 paper
NM_001164766.2
p.E871delFs
c.2612_2613delCT
1 paper
NM_006885.4
p.E1785fs
c.5353_5354fs
1 paper
NM_001164766.2
p.T869del1
c.2605_2607delTGT
1 paper
NM_006885.4
p.N1810K
c.5430C>G
1 paper
NM_006885.4
p.N1810K
c.5430C>A
1 paper
NM_006885.4
p.V1817L
c.5449G>T
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