Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.L50L

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.L50L
c.150G>A
Surrounding Variants
1 paper
NM_006885.4
p.L50L
c.148T>C
1 paper
NM_006885.4
p.G48R
c.142G>C
1 paper
NM_006885.4
p.G48R
c.142G>A
1 paper
NM_006885.4
p.R54S
c.162G>T
1 paper
NM_006885.4
p.R54_A55del1
c.162_164delGCC
1 paper
NM_006885.4
p.A55delFs
c.165delG
1 paper
NM_006885.4
p.F57F
c.171C>T
1 paper
NM_006885.4
p.N58S
c.173A>G
1 paper
NM_006885.4
p.S42C
c.125C>G
1 paper
NM_006885.4
p.S38_S42delFs
c.112_124del13
1 paper
NM_006885.4
p.Q41P
c.122A>C
1 paper
NM_006885.4
p.R60R
c.180C>A
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