Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.K827_H828ins1

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
2 papers
NM_006885.4
p.K827_H828ins1
c.2481_2482insCAA
Surrounding Variants
1 paper
NM_006885.4
p.K827_H828ins2
c.2481_2482ins6
1 paper
NM_006885.4
p.K827ins0
c.2479_2481dupAAG
3 papers
NM_006885.4
p.K827del1
c.2479_2481delCTT
2 papers
NM_006885.4
p.E826_K827del2
c.2476_2480del6
2 papers
NM_006885.4
p.S825_K827del3
c.2473_2480del9
1 paper
NM_006885.4
p.S825_E826del1
c.2475_2477delTCA
1 paper
NM_006885.4
p.T824I
c.2471C>T
1 paper
NM_006885.4
p.H830_N831insFs
c.2490_2491insT
1 paper
NM_006885.4
p.H822Y
c.2464C>T
1 paper
NM_006885.4
p.L834S
c.2501T>C
2 papers
NM_006885.4
p.R820H
c.2459G>A
2 papers
NM_006885.4
p.R820C
c.2458C>T
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