Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.R569H

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.R569H
c.1706G>A
Surrounding Variants
1 paper
NM_006885.4
p.N568S
c.1703A>G
1 paper
NM_006885.4
p.L570F
c.1710A>T
2 papers
NM_006885.4
p.S574fs
c.1720_1721fs
1 paper
NM_006885.4
p.G576C
c.1726G>T
1 paper
NM_006885.4
p.S571_E575delFs
c.1712_1724del13
2 papers
NM_006885.4
p.V577I
c.1729G>A
1 paper
NM_006885.4
p.F558delFs
c.1673delA
1 paper
NM_006885.4
p.N580_V581delFs
c.1738_1741del4
1 paper
NM_006885.4
p.S557Y
c.1670C>A
1 paper
NM_006885.4
p.S557T
c.1669T>A
1 paper
NM_006885.4
p.A582T
c.1744G>A
2 papers
NM_006885.4
p.N580_V581delFs
c.1740_1741delCA
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