Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E2814K

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.E2814K
c.8440G>A
Surrounding Variants
1 paper
NM_006885.4
p.E2811D
c.8433A>T
1 paper
NM_006885.4
p.E2811D
c.8433A>C
2 papers
NM_006885.4
p.I2810V
c.8428A>G
2 papers
NM_006885.4
p.K2806R
c.8417A>G
1 paper
NM_006885.4
p.P2802S
c.8404C>T
1 paper
NM_006885.4
p.D2833N
c.8497G>A
1 paper
NM_006885.4
p.E2793*
c.8377G>T
1 paper
NM_006885.4
p.N2832_C2835del4
c.8494_8504del12
1 paper
NM_006885.4
p.S2837fs
c.8509_8510fs
1 paper
NM_006885.4
p.T2843fs
c.8527_8528fs
1 paper
NM_006885.4
p.T2843delFs
c.8528_8529delTG
1 paper
NM_006885.4
p.T2845fs
c.8533_8534fs
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