Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.L411L

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.L411L
c.1231C>T
Surrounding Variants
1 paper
NM_006885.4
p.L406F
c.1216C>T
1 paper
NM_006885.4
p.T416fs
c.1246_1247fs
1 paper
NM_006885.4
p.P419S
c.1255C>T
1 paper
NM_006885.4
p.L403F
c.1207C>T
1 paper
NM_006885.4
p.S398fs
c.1192_1193fs
1 paper
NM_006885.4
p.T396S
c.1186A>T
1 paper
NM_006885.4
p.T396A
c.1186A>G
4 papers
NM_006885.4
p.T428P
c.1282A>C
1 paper
NM_006885.4
p.S430F
c.1289C>T
1 paper
NM_006885.4
p.S431fs
c.1291_1292fs
1 paper
NM_006885.4
p.Q389K
c.1165C>A
1 paper
NM_006885.4
p.G433G
c.1299C>T
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