Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.S76R

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.S76R
c.228C>A
Surrounding Variants
1 paper
NM_006885.4
p.S76S
c.228C>T
1 paper
NM_006885.4
p.S76T
c.227G>C
1 paper
NM_006885.4
p.S76N
c.227G>A
1 paper
NM_006885.4
p.E73K
c.217G>A
1 paper
NM_006885.4
p.S72fs
c.214_215fs
1 paper
NM_006885.4
p.S72C
c.215C>G
1 paper
NM_006885.4
p.S72delFs
c.214delA
9 papers
NM_006885.4
p.S72A
c.214T>G
1 paper
NM_006885.4
p.P71_S72delins
c.213_214delinsTG
1 paper
NM_006885.4
p.P70P
c.210C>G
2 papers
NM_006885.4
p.E83*
c.247G>T
1 paper
NM_006885.4
p.S85S
c.255G>A
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