Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E687K

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.E687K
c.2059G>A
Surrounding Variants
1 paper
NM_006885.4
p.L686_E687insFs
c.2058_2059insGG
1 paper
NM_006885.4
p.L686insFs
c.2057_2058insCA
1 paper
NM_006885.4
p.A688G
c.2063C>G
1 paper
NM_006885.4
p.H689L
c.2066A>T
1 paper
NM_006885.4
p.Y682insFs
c.2045dupA
1 paper
NM_006885.4
p.K681_Y682del1
c.2043_2045delTAC
1 paper
NM_006885.4
p.Y680delFs
c.2038_2039delTA
2 papers
NM_006885.4
p.K681E
c.2041A>G
1 paper
NM_006885.4
p.H679Q
c.2037C>G
1 paper
NM_006885.4
p.H679Q
c.2037C>A
1 paper
NM_006885.4
p.W678C
c.2034G>T
1 paper
NM_006885.4
p.W678C
c.2034G>C
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