Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.L379V

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
4 papers
NM_006885.4
p.L379V
c.1135C>G
Surrounding Variants
1 paper
NM_006885.4
p.A378A
c.1134T>G
1 paper
NM_006885.4
p.A381V
c.1142C>T
1 paper
NM_006885.4
p.E376*
c.1126G>T
1 paper
NM_006885.4
p.G382fs
c.1144_1145fs
1 paper
NM_006885.4
p.S383F
c.1148C>T
3 papers
NM_006885.4
p.S383C
c.1148C>G
1 paper
NM_006885.4
p.A385T
c.1153G>A
1 paper
NM_006885.4
p.R372Q
c.1115G>A
1 paper
NM_006885.4
p.G386C
c.1156G>T
1 paper
NM_006885.4
p.G386D
c.1157G>A
1 paper
NM_006885.4
p.E388K
c.1162G>A
1 paper
NM_006885.4
p.Q389K
c.1165C>A
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