Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.E1612D

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.E1612D
c.4836G>C
Surrounding Variants
1 paper
NM_006885.4
p.E1612D
c.4836G>T
1 paper
NM_006885.4
p.S1617F
c.4850C>T
2 papers
NM_006885.4
p.H1620fs
c.4858_4859fs
2 papers
NM_006885.4
p.L1619insFs
c.4857dupA
1 paper
NM_006885.4
p.H1620R
c.4859A>G
1 paper
NM_006885.4
p.L1619Fs
c.4857delinsACFs
1 paper
NM_006885.4
p.H1620fs
c.4858_4859fs
1 paper
NM_006885.4
p.T1600_C1601insFs
c.4800_4801insGG
1 paper
NM_006885.4
p.T1600insFs
c.4799_4800insCA
1 paper
NM_006885.4
p.K1628E
c.4882A>G
1 paper
NM_006885.4
p.F1596fs
c.4786_4787fs
1 paper
NM_006885.4
p.P1595A
c.4783C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."