Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E1984Q

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.E1984Q
c.5950G>C
Surrounding Variants
1 paper
NM_006885.4
p.S1987S
c.5961C>G
1 paper
NM_006885.4
p.G1977R
c.5929G>A
1 paper
NM_006885.4
p.N1971K
c.5913T>G
1 paper
NM_006885.4
p.N1971K
c.5913T>A
1 paper
NM_006885.4
p.K1970M
c.5909A>T
1 paper
NM_006885.4
p.K1966ins1
c.5897_5898insCAA
1 paper
NM_006885.4
p.Q2002*
c.6004C>T
1 paper
NM_006885.4
p.Q2002E
c.6004C>G
1 paper
NM_006885.4
p.E2003D
c.6009G>T
1 paper
NM_006885.4
p.E2003D
c.6009G>C
1 paper
NM_006885.4
p.Q1959P
c.5876A>C
1 paper
NM_006885.4
p.I1958I
c.5874C>A
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