Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.S544L

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.S544L
c.1631C>T
Surrounding Variants
1 paper
NM_006885.4
p.R545S
c.1635G>T
1 paper
NM_006885.4
p.R545S
c.1635G>C
1 paper
NM_006885.4
p.G546S
c.1636G>A
1 paper
NM_006885.4
p.Q541H
c.1623G>T
1 paper
NM_006885.4
p.Q541H
c.1623G>C
1 paper
NM_006885.4
p.T547A
c.1639A>G
1 paper
NM_006885.4
p.N538fs
c.1612_1613fs
1 paper
NM_006885.4
p.P537delFs
c.1611delA
1 paper
NM_006885.4
p.S551T
c.1652G>C
1 paper
NM_006885.4
p.P537H
c.1610C>A
3 papers
NM_006885.4
p.P534R
c.1601C>G
1 paper
NM_006885.4
p.S557T
c.1669T>A
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