Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E2177K

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.E2177K
c.6529G>A
Surrounding Variants
1 paper
NM_006885.4
p.E2177fs
c.6529_6530fs
1 paper
NM_006885.4
p.E2177_M2178delFs
c.6531_6532delTC
1 paper
NM_006885.4
p.K2181N
c.6543G>T
1 paper
NM_006885.4
p.K2181N
c.6543G>C
1 paper
NM_006885.4
p.Q2186L
c.6557A>T
1 paper
NM_006885.4
p.F2164L
c.6492T>G
1 paper
NM_006885.4
p.F2164L
c.6492T>A
1 paper
NM_006885.4
p.F2164L
c.6490T>C
1 paper
NM_006885.4
p.L2160F
c.6480G>T
1 paper
NM_006885.4
p.L2160F
c.6480G>C
1 paper
NM_006885.4
p.Q2202*
c.6604C>T
1 paper
NM_006885.4
p.R2203H
c.6608G>A
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