Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E1496K

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.E1496K
c.4486G>A
Surrounding Variants
1 paper
NM_006885.4
p.D1498H
c.4492G>C
1 paper
NM_006885.4
p.S1504fs
c.4510_4511fs
1 paper
NM_006885.4
p.T1506M
c.4517C>T
1 paper
NM_006885.4
p.D1484fs
c.4450_4451fs
1 paper
NM_006885.4
p.A1482A
c.4446A>T
1 paper
NM_006885.4
p.A1482insFs
c.4445_4446insTG
1 paper
NM_006885.4
p.A1482ins1
c.4445_4446insTGA
2 papers
NM_006885.4
p.L1481V
c.4441C>G
1 paper
NM_006885.4
p.Q1514*
c.4540C>T
1 paper
NM_006885.4
p.Q1514K
c.4540C>A
4 papers
NM_006885.4
p.M1476I
c.4428G>T
4 papers
NM_006885.4
p.M1476I
c.4428G>C
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