Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.Q1857E

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.Q1857E
c.5569C>G
Surrounding Variants
1 paper
NM_006885.4
p.Q1857K
c.5569C>A
1 paper
NM_006885.4
p.L1858V
c.5572C>G
1 paper
NM_006885.4
p.L1858fs
c.5572_5573fs
2 papers
NM_006885.4
p.L1858_S1859delFs
c.5574_5577del4
1 paper
NM_006885.4
p.Q1852Q
c.5556G>A
1 paper
NM_006885.4
p.A1861G
c.5582C>G
1 paper
NM_006885.4
p.P1851P
c.5553G>A
1 paper
NM_006885.4
p.Q1862H
c.5586G>T
1 paper
NM_006885.4
p.Q1862H
c.5586G>C
1 paper
NM_006885.4
p.H1864ins2
c.5590_5591ins6
1 paper
NM_006885.4
p.Q1848del1
c.5542_5543delCTG
1 paper
NM_006885.4
p.L1868F
c.5602C>T
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